Canonical Allele Identifier: CA386303951

Gene: PAH

Linked Data

• MyVariant Identifiers: chr12:g.103288526C>G (hg19) ; chr12:g.102894748C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102894748C>G , CM000674.2:g.102894748C>G	GRCh38
NC_000012.11:g.103288526C>G , CM000674.1:g.103288526C>G	GRCh37
NC_000012.10:g.101812656C>G	NCBI36
NG_008690.1:g.27855G>C
NG_008690.2:g.68663G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.339G>C MANE Select	ENSP00000448059.1:p.Lys113Asn
ENST00000307000.7:c.324G>C	ENSP00000303500.2:p.Lys108Asn
ENST00000546844.1:c.339G>C	ENSP00000446658.1:p.Lys113Asn
ENST00000548928.1:n.261G>C
ENST00000549111.5:n.435G>C
ENST00000550978.6:c.323G>C
ENST00000551337.5:c.339G>C	ENSP00000447620.1:p.Lys113Asn
ENST00000551988.5:n.428G>C
ENST00000553106.5:c.339G>C	ENSP00000448059.1:p.Lys113Asn
NM_000277.1:c.339G>C	NP_000268.1:p.Lys113Asn
XM_011538422.1:c.339G>C	XP_011536724.1:p.Lys113Asn
NM_000277.2:c.339G>C	NP_000268.1:p.Lys113Asn
NM_001354304.1:c.339G>C	NP_001341233.1:p.Lys113Asn
XM_017019370.2:c.339G>C	XP_016874859.1:p.Lys113Asn
NM_000277.3:c.339G>C MANE Select	NP_000268.1:p.Lys113Asn
NM_001354304.2:c.339G>C	NP_001341233.1:p.Lys113Asn