Canonical Allele Identifier: CA6748716
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs753592477
ExAC: 12:103234335 G / C
gnomAD v2: 12-103234335-G-C
MyVariant Identifiers: chr12:g.103234335G>C (hg19) chr12:g.102840557G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102840557G>C , CM000674.2:g.102840557G>C GRCh38
NC_000012.11:g.103234335G>C , CM000674.1:g.103234335G>C GRCh37
NC_000012.10:g.101758465G>C NCBI36
NG_008690.1:g.82046C>G
NG_008690.2:g.122854C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.1200-42C>G MANE Select ENSP00000448059.1:n.1200-42C>G
ENST00000307000.7:c.1185-42C>G ENSP00000303500.2:n.1185-42C>G
ENST00000549247.6:n.959-42C>G
ENST00000551114.2:n.862-42C>G
ENST00000553106.5:c.1200-42C>G ENSP00000448059.1:n.1200-42C>G
ENST00000635477.1:c.304-42C>G
ENST00000635528.1:n.715-42C>G
NM_000277.1:c.1200-42C>G NP_000268.1:n.1200-42C>G
XM_011538422.1:c.1143-42C>G XP_011536724.1:n.1143-42C>G
NM_000277.2:c.1200-42C>G NP_000268.1:n.1200-42C>G
NM_001354304.1:c.1200-42C>G NP_001341233.1:n.1200-42C>G
NM_000277.3:c.1200-42C>G MANE Select NP_000268.1:n.1200-42C>G
NM_001354304.2:c.1200-42C>G NP_001341233.1:n.1200-42C>G
Search 100 bp 5'
Search 100 bp 3'