Canonical Allele Identifier: CA386295241

Gene: PAH

Linked Data

• MyVariant Identifiers: chr12:g.103246629A>C (hg19) ; chr12:g.102852851A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102852851A>C , CM000674.2:g.102852851A>C	GRCh38
NC_000012.11:g.103246629A>C , CM000674.1:g.103246629A>C	GRCh37
NC_000012.10:g.101770759A>C	NCBI36
NG_008690.1:g.69752T>G
NG_008690.2:g.110560T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.806T>G MANE Select	ENSP00000448059.1:p.Ile269Ser
ENST00000307000.7:c.791T>G	ENSP00000303500.2:p.Ile264Ser
ENST00000549247.6:n.565T>G
ENST00000553106.5:c.806T>G	ENSP00000448059.1:p.Ile269Ser
NM_000277.1:c.806T>G	NP_000268.1:p.Ile269Ser
XM_011538422.1:c.806T>G	XP_011536724.1:p.Ile269Ser
NM_000277.2:c.806T>G	NP_000268.1:p.Ile269Ser
NM_001354304.1:c.806T>G	NP_001341233.1:p.Ile269Ser
NM_000277.3:c.806T>G MANE Select	NP_000268.1:p.Ile269Ser
NM_001354304.2:c.806T>G	NP_001341233.1:p.Ile269Ser