Canonical Allele Identifier: CA386303940

Gene: PAH

Linked Data

• dbSNP Id: rs1877422348
• gnomAD v3: 12-102894744-T-C
• gnomAD v4: 12-102894744-T-C
• MyVariant Identifiers: chr12:g.103288522T>C (hg19) ; chr12:g.102894744T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102894744T>C , CM000674.2:g.102894744T>C	GRCh38
NC_000012.11:g.103288522T>C , CM000674.1:g.103288522T>C	GRCh37
NC_000012.10:g.101812652T>C	NCBI36
NG_008690.1:g.27859A>G
NG_008690.2:g.68667A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.343A>G MANE Select	ENSP00000448059.1:p.Lys115Glu
ENST00000307000.7:c.328A>G	ENSP00000303500.2:p.Lys110Glu
ENST00000546844.1:c.343A>G	ENSP00000446658.1:p.Lys115Glu
ENST00000548928.1:n.265A>G
ENST00000549111.5:n.439A>G
ENST00000550978.6:c.327A>G
ENST00000551337.5:c.343A>G	ENSP00000447620.1:p.Lys115Glu
ENST00000551988.5:n.432A>G
ENST00000553106.5:c.343A>G	ENSP00000448059.1:p.Lys115Glu
NM_000277.1:c.343A>G	NP_000268.1:p.Lys115Glu
XM_011538422.1:c.343A>G	XP_011536724.1:p.Lys115Glu
NM_000277.2:c.343A>G	NP_000268.1:p.Lys115Glu
NM_001354304.1:c.343A>G	NP_001341233.1:p.Lys115Glu
XM_017019370.2:c.343A>G	XP_016874859.1:p.Lys115Glu
NM_000277.3:c.343A>G MANE Select	NP_000268.1:p.Lys115Glu
NM_001354304.2:c.343A>G	NP_001341233.1:p.Lys115Glu