Canonical Allele Identifier: CA6749038

Gene: PAH

Linked Data

• dbSNP Id: rs143358918
• ExAC: 12:103306575 T / C
• gnomAD v2: 12-103306575-T-C
• gnomAD v3: 12-102912797-T-C
• gnomAD v4: 12-102912797-T-C
• MyVariant Identifiers: chr12:g.103306575T>C (hg19) ; chr12:g.102912797T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102912797T>C , CM000674.2:g.102912797T>C	GRCh38
NC_000012.11:g.103306575T>C , CM000674.1:g.103306575T>C	GRCh37
NC_000012.10:g.101830705T>C	NCBI36
NG_008690.1:g.9806A>G
NG_008690.2:g.50614A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.162A>G MANE Select	ENSP00000448059.1:p.Leu54=
ENST00000307000.7:c.147A>G	ENSP00000303500.2:p.Leu49=
ENST00000546844.1:c.162A>G	ENSP00000446658.1:p.Leu54=
ENST00000548677.2:n.249A>G
ENST00000548928.1:n.84A>G
ENST00000549111.5:n.258A>G
ENST00000550978.6:c.146A>G
ENST00000551337.5:c.162A>G	ENSP00000447620.1:p.Leu54=
ENST00000551988.5:n.251A>G
ENST00000553106.5:c.162A>G	ENSP00000448059.1:p.Leu54=
ENST00000635500.1:n.130A>G
NM_000277.1:c.162A>G	NP_000268.1:p.Leu54=
XM_011538422.1:c.162A>G	XP_011536724.1:p.Leu54=
NM_000277.2:c.162A>G	NP_000268.1:p.Leu54=
NM_001354304.1:c.162A>G	NP_001341233.1:p.Leu54=
XM_017019370.2:c.162A>G	XP_016874859.1:p.Leu54=
NM_000277.3:c.162A>G MANE Select	NP_000268.1:p.Leu54=
NM_001354304.2:c.162A>G	NP_001341233.1:p.Leu54=