Canonical Allele Identifier: CA273106
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 92731
ClinVar RCV Id: RCV000078506 RCV000150075 RCV000622360 RCV003915048
dbSNP Id: rs5030857
ExAC: 12:103234285 G / A
gnomAD v2: 12-103234285-G-A
gnomAD v3: 12-102840507-G-A
gnomAD v4: 12-102840507-G-A
MyVariant Identifiers: chr12:g.103234285G>A (hg19) chr12:g.102840507G>A (hg38)
ERepo: CA273106/MONDO:0009861/006
PubMed: PMID:8268925 PMID:8406445 PMID:8739972 PMID:8889590 PMID:9399896 PMID:9429153 PMID:9781015 PMID:10479481 PMID:11043162 PMID:11328945 PMID:11385716 PMID:11486900 PMID:11524738 PMID:11581453 PMID:12409276 PMID:12501224 PMID:12640344 PMID:12644360 PMID:12649065 PMID:12655550 PMID:12655553 PMID:14760268 PMID:15171997 PMID:15665165 PMID:16198137 PMID:17096675 PMID:17410469 PMID:17443661 PMID:17935162 PMID:18294361 PMID:18299955 PMID:18566668 PMID:19062537 PMID:20188615 PMID:21820508 PMID:21953985 PMID:22330942 PMID:22513348 PMID:22526846 PMID:22965559 PMID:23430547 PMID:23500595 PMID:23514811 PMID:23559577 PMID:23764561 PMID:23792259 PMID:24350308 PMID:25087612 PMID:25596310
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102840507G>A , CM000674.2:g.102840507G>A GRCh38
NC_000012.11:g.103234285G>A , CM000674.1:g.103234285G>A GRCh37
NC_000012.10:g.101758415G>A NCBI36
NG_008690.1:g.82096C>T
NG_008690.2:g.122904C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.1208C>T MANE Select ENSP00000448059.1:p.Ala403Val
ENST00000307000.7:c.1193C>T ENSP00000303500.2:p.Ala398Val
ENST00000551114.2:n.870C>T
ENST00000553106.5:c.1208C>T ENSP00000448059.1:p.Ala403Val
ENST00000635477.1:c.312C>T
ENST00000635528.1:n.723C>T
NM_000277.1:c.1208C>T NP_000268.1:p.Ala403Val
XM_011538422.1:c.1151C>T XP_011536724.1:p.Ala384Val
NM_000277.2:c.1208C>T NP_000268.1:p.Ala403Val
NM_001354304.1:c.1208C>T NP_001341233.1:p.Ala403Val
NM_000277.3:c.1208C>T MANE Select NP_000268.1:p.Ala403Val
NM_001354304.2:c.1208C>T NP_001341233.1:p.Ala403Val
Search 100 bp 5'
Search 100 bp 3'