Canonical Allele Identifier: CA682824895

Gene: PAH

Linked Data

• dbSNP Id: rs1250199579
• gnomAD v4: 12-102846845-G-A
• MyVariant Identifiers: chr12:g.103240623G>A (hg19) ; chr12:g.102846845G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102846845G>A , CM000674.2:g.102846845G>A	GRCh38
NC_000012.11:g.103240623G>A , CM000674.1:g.103240623G>A	GRCh37
NC_000012.10:g.101764753G>A	NCBI36
NG_008690.1:g.75758C>T
NG_008690.2:g.116566C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.969+50C>T MANE Select	ENSP00000448059.1:n.969+50C>T
ENST00000307000.7:c.954+50C>T	ENSP00000303500.2:n.954+50C>T
ENST00000549247.6:n.728+50C>T
ENST00000551114.2:n.631+50C>T
ENST00000553106.5:c.969+50C>T	ENSP00000448059.1:n.969+50C>T
ENST00000635477.1:c.74-2414C>T
ENST00000635528.1:n.484+50C>T
NM_000277.1:c.969+50C>T	NP_000268.1:n.969+50C>T
XM_011538422.1:c.913-2414C>T	XP_011536724.1:n.913-2414C>T
NM_000277.2:c.969+50C>T	NP_000268.1:n.969+50C>T
NM_001354304.1:c.969+50C>T	NP_001341233.1:n.969+50C>T
NM_000277.3:c.969+50C>T MANE Select	NP_000268.1:n.969+50C>T
NM_001354304.2:c.969+50C>T	NP_001341233.1:n.969+50C>T