Canonical Allele Identifier: CA242744539
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs753759297
gnomAD v2: 12-103238402-G-A
gnomAD v3: 12-102844624-G-A
gnomAD v4: 12-102844624-G-A
MyVariant Identifiers: chr12:g.103238402G>A (hg19) chr12:g.102844624G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102844624G>A , CM000674.2:g.102844624G>A GRCh38
NC_000012.11:g.103238402G>A , CM000674.1:g.103238402G>A GRCh37
NC_000012.10:g.101762532G>A NCBI36
NG_008690.1:g.77979C>T
NG_008690.2:g.118787C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.970-193C>T MANE Select ENSP00000448059.1:n.970-193C>T
ENST00000307000.7:c.955-193C>T ENSP00000303500.2:n.955-193C>T
ENST00000549247.6:n.729-193C>T
ENST00000551114.2:n.632-193C>T
ENST00000553106.5:c.970-193C>T ENSP00000448059.1:n.970-193C>T
ENST00000635477.1:c.74-193C>T
ENST00000635528.1:n.485-193C>T
NM_000277.1:c.970-193C>T NP_000268.1:n.970-193C>T
XM_011538422.1:c.913-193C>T XP_011536724.1:n.913-193C>T
NM_000277.2:c.970-193C>T NP_000268.1:n.970-193C>T
NM_001354304.1:c.970-193C>T NP_001341233.1:n.970-193C>T
NM_000277.3:c.970-193C>T MANE Select NP_000268.1:n.970-193C>T
NM_001354304.2:c.970-193C>T NP_001341233.1:n.970-193C>T
Search 100 bp 5'
Search 100 bp 3'