Canonical Allele Identifier: CA386299735
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 1810385
ClinVar RCV Id: RCV002509872
dbSNP Id: rs281865448
MyVariant Identifiers: chr12:g.103260443T>C (hg19) chr12:g.102866665T>C (hg38)
ERepo: CA386299735/MONDO:0009861/006
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102866665T>C , CM000674.2:g.102866665T>C GRCh38
NC_000012.11:g.103260443T>C , CM000674.1:g.103260443T>C GRCh37
NC_000012.10:g.101784573T>C NCBI36
NG_008690.1:g.55938A>G
NG_008690.2:g.96746A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.442-2A>G MANE Select ENSP00000448059.1:n.442-2A>G
ENST00000307000.7:c.427-2A>G ENSP00000303500.2:n.427-2A>G
ENST00000549111.5:n.538-2A>G
ENST00000551988.5:n.530+10797A>G
ENST00000553106.5:c.442-2A>G ENSP00000448059.1:n.442-2A>G
NM_000277.1:c.442-2A>G NP_000268.1:n.442-2A>G
XM_011538422.1:c.442-2A>G XP_011536724.1:n.442-2A>G
NM_000277.2:c.442-2A>G NP_000268.1:n.442-2A>G
NM_001354304.1:c.442-2A>G NP_001341233.1:n.442-2A>G
XM_017019370.2:c.442-2A>G XP_016874859.1:n.442-2A>G
NM_000277.3:c.442-2A>G MANE Select NP_000268.1:n.442-2A>G
NM_001354304.2:c.442-2A>G NP_001341233.1:n.442-2A>G
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