Canonical Allele Identifier: CA2620527055
Gene: PAH HGNC NCBI

Linked Data

gnomAD v4: 12-102840641-A-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102840641A>C , CM000674.2:g.102840641A>C GRCh38
NC_000012.11:g.103234419A>C , CM000674.1:g.103234419A>C GRCh37
NC_000012.10:g.101758549A>C NCBI36
NG_008690.1:g.81962T>G
NG_008690.2:g.122770T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.1200-126T>G MANE Select ENSP00000448059.1:n.1200-126T>G
ENST00000307000.7:c.1185-126T>G ENSP00000303500.2:n.1185-126T>G
ENST00000549247.6:n.959-126T>G
ENST00000551114.2:n.862-126T>G
ENST00000553106.5:c.1200-126T>G ENSP00000448059.1:n.1200-126T>G
ENST00000635477.1:c.304-126T>G
ENST00000635528.1:n.715-126T>G
NM_000277.1:c.1200-126T>G NP_000268.1:n.1200-126T>G
XM_011538422.1:c.1143-126T>G XP_011536724.1:n.1143-126T>G
NM_000277.2:c.1200-126T>G NP_000268.1:n.1200-126T>G
NM_001354304.1:c.1200-126T>G NP_001341233.1:n.1200-126T>G
NM_000277.3:c.1200-126T>G MANE Select NP_000268.1:n.1200-126T>G
NM_001354304.2:c.1200-126T>G NP_001341233.1:n.1200-126T>G
Search 100 bp 5'
Search 100 bp 3'