Canonical Allele Identifier: CA15753673
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 1276704
ClinVar RCV Id: RCV001687896
dbSNP Id: rs1072528
gnomAD v2: 12-103238404-C-T
gnomAD v3: 12-102844626-C-T
gnomAD v4: 12-102844626-C-T
MyVariant Identifiers: chr12:g.103238404C>T (hg19) chr12:g.102844626C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102844626C>T , CM000674.2:g.102844626C>T GRCh38
NC_000012.11:g.103238404C>T , CM000674.1:g.103238404C>T GRCh37
NC_000012.10:g.101762534C>T NCBI36
NG_008690.1:g.77977G>A
NG_008690.2:g.118785G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.970-195G>A MANE Select ENSP00000448059.1:n.970-195G>A
ENST00000307000.7:c.955-195G>A ENSP00000303500.2:n.955-195G>A
ENST00000549247.6:n.729-195G>A
ENST00000551114.2:n.632-195G>A
ENST00000553106.5:c.970-195G>A ENSP00000448059.1:n.970-195G>A
ENST00000635477.1:c.74-195G>A
ENST00000635528.1:n.485-195G>A
NM_000277.1:c.970-195G>A NP_000268.1:n.970-195G>A
XM_011538422.1:c.913-195G>A XP_011536724.1:n.913-195G>A
NM_000277.2:c.970-195G>A NP_000268.1:n.970-195G>A
NM_001354304.1:c.970-195G>A NP_001341233.1:n.970-195G>A
NM_000277.3:c.970-195G>A MANE Select NP_000268.1:n.970-195G>A
NM_001354304.2:c.970-195G>A NP_001341233.1:n.970-195G>A
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