Canonical Allele Identifier: CA229679
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102775
ClinVar RCV Id: RCV000089026 RCV001381395
dbSNP Id: rs62507319
gnomAD v3: 12-102855177-T-C
gnomAD v4: 12-102855177-T-C
MyVariant Identifiers: chr12:g.103248955T>C (hg19) chr12:g.102855177T>C (hg38)
ERepo: CA229679/MONDO:0009861/006
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102855177T>C , CM000674.2:g.102855177T>C GRCh38
NC_000012.11:g.103248955T>C , CM000674.1:g.103248955T>C GRCh37
NC_000012.10:g.101773085T>C NCBI36
NG_008690.1:g.67426A>G
NG_008690.2:g.108234A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.665A>G MANE Select ENSP00000448059.1:p.Asp222Gly
ENST00000307000.7:c.650A>G ENSP00000303500.2:p.Asp217Gly
ENST00000549111.5:n.761A>G
ENST00000553106.5:c.665A>G ENSP00000448059.1:p.Asp222Gly
NM_000277.1:c.665A>G NP_000268.1:p.Asp222Gly
XM_011538422.1:c.665A>G XP_011536724.1:p.Asp222Gly
NM_000277.2:c.665A>G NP_000268.1:p.Asp222Gly
NM_001354304.1:c.665A>G NP_001341233.1:p.Asp222Gly
XM_017019370.2:c.665A>G XP_016874859.1:p.Asp222Gly
NM_000277.3:c.665A>G MANE Select NP_000268.1:p.Asp222Gly
NM_001354304.2:c.665A>G NP_001341233.1:p.Asp222Gly
Search 100 bp 5'
Search 100 bp 3'