Canonical Allele Identifier: CA386303864

Gene: PAH

Linked Data

• MyVariant Identifiers: chr12:g.103310884G>C (hg19) ; chr12:g.102917106G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102917106G>C , CM000674.2:g.102917106G>C	GRCh38
NC_000012.11:g.103310884G>C , CM000674.1:g.103310884G>C	GRCh37
NC_000012.10:g.101835014G>C	NCBI36
NG_008690.1:g.5497C>G
NG_008690.2:g.46305C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.25C>G MANE Select	ENSP00000448059.1:p.Pro9Ala
ENST00000307000.7:c.-123C>G	ENSP00000303500.2:n.-123C>G
ENST00000546844.1:c.25C>G	ENSP00000446658.1:p.Pro9Ala
ENST00000547319.1:n.336C>G
ENST00000549111.5:n.121C>G
ENST00000550978.6:c.9C>G
ENST00000551337.5:c.25C>G	ENSP00000447620.1:p.Pro9Ala
ENST00000551988.5:n.114C>G
ENST00000553106.5:c.25C>G	ENSP00000448059.1:p.Pro9Ala
ENST00000635500.1:n.29-4208C>G
NM_000277.1:c.25C>G	NP_000268.1:p.Pro9Ala
XM_011538422.1:c.25C>G	XP_011536724.1:p.Pro9Ala
NM_000277.2:c.25C>G	NP_000268.1:p.Pro9Ala
NM_001354304.1:c.25C>G	NP_001341233.1:p.Pro9Ala
XM_017019370.2:c.25C>G	XP_016874859.1:p.Pro9Ala
NM_000277.3:c.25C>G MANE Select	NP_000268.1:p.Pro9Ala
NM_001354304.2:c.25C>G	NP_001341233.1:p.Pro9Ala