Canonical Allele Identifier: CA386302358

Gene: PAH

Linked Data

• dbSNP Id: rs1206656229
• gnomAD v2: 12-103306598-C-A
• gnomAD v3: 12-102912820-C-A
• gnomAD v4: 12-102912820-C-A
• MyVariant Identifiers: chr12:g.103306598C>A (hg19) ; chr12:g.102912820C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102912820C>A , CM000674.2:g.102912820C>A	GRCh38
NC_000012.11:g.103306598C>A , CM000674.1:g.103306598C>A	GRCh37
NC_000012.10:g.101830728C>A	NCBI36
NG_008690.1:g.9783G>T
NG_008690.2:g.50591G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.139G>T MANE Select	ENSP00000448059.1:p.Ala47Ser
ENST00000307000.7:c.124G>T	ENSP00000303500.2:p.Ala42Ser
ENST00000546844.1:c.139G>T	ENSP00000446658.1:p.Ala47Ser
ENST00000548677.2:n.226G>T
ENST00000548928.1:n.61G>T
ENST00000549111.5:n.235G>T
ENST00000550978.6:c.123G>T
ENST00000551337.5:c.139G>T	ENSP00000447620.1:p.Ala47Ser
ENST00000551988.5:n.228G>T
ENST00000553106.5:c.139G>T	ENSP00000448059.1:p.Ala47Ser
ENST00000635500.1:n.107G>T
NM_000277.1:c.139G>T	NP_000268.1:p.Ala47Ser
XM_011538422.1:c.139G>T	XP_011536724.1:p.Ala47Ser
NM_000277.2:c.139G>T	NP_000268.1:p.Ala47Ser
NM_001354304.1:c.139G>T	NP_001341233.1:p.Ala47Ser
XM_017019370.2:c.139G>T	XP_016874859.1:p.Ala47Ser
NM_000277.3:c.139G>T MANE Select	NP_000268.1:p.Ala47Ser
NM_001354304.2:c.139G>T	NP_001341233.1:p.Ala47Ser