Canonical Allele Identifier: CA607148737
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs1389568484
gnomAD v2: 12-103310919-C-T
gnomAD v4: 12-102917141-C-T
MyVariant Identifiers: chr12:g.103310919C>T (hg19) chr12:g.102917141C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102917141C>T , CM000674.2:g.102917141C>T GRCh38
NC_000012.11:g.103310919C>T , CM000674.1:g.103310919C>T GRCh37
NC_000012.10:g.101835049C>T NCBI36
NG_008690.1:g.5462G>A
NG_008690.2:g.46270G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.-11G>A MANE Select ENSP00000448059.1:n.-11G>A
ENST00000307000.7:c.-158G>A ENSP00000303500.2:n.-158G>A
ENST00000546844.1:c.-11G>A ENSP00000446658.1:n.-11G>A
ENST00000547319.1:n.301G>A
ENST00000549111.5:n.86G>A
ENST00000551337.5:c.-11G>A ENSP00000447620.1:n.-11G>A
ENST00000551988.5:n.79G>A
ENST00000553106.5:c.-11G>A ENSP00000448059.1:n.-11G>A
ENST00000635500.1:n.29-4243G>A
NM_000277.1:c.-11G>A NP_000268.1:n.-11G>A
XM_011538422.1:c.-11G>A XP_011536724.1:n.-11G>A
NM_000277.2:c.-11G>A NP_000268.1:n.-11G>A
NM_001354304.1:c.-11G>A NP_001341233.1:n.-11G>A
XM_017019370.2:c.-11G>A XP_016874859.1:n.-11G>A
NM_000277.3:c.-11G>A MANE Select NP_000268.1:n.-11G>A
NM_001354304.2:c.-11G>A NP_001341233.1:n.-11G>A
Search 100 bp 5'
Search 100 bp 3'