Canonical Allele Identifier: CA386493502

Gene: PAH

Linked Data

• COSMIC: COSM6071190
• MyVariant Identifiers: chr12:g.103238194C>A (hg19) ; chr12:g.102844416C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102844416C>A , CM000674.2:g.102844416C>A	GRCh38
NC_000012.11:g.103238194C>A , CM000674.1:g.103238194C>A	GRCh37
NC_000012.10:g.101762324C>A	NCBI36
NG_008690.1:g.78187G>T
NG_008690.2:g.118995G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.985G>T MANE Select	ENSP00000448059.1:p.Val329Leu
ENST00000307000.7:c.970G>T	ENSP00000303500.2:p.Val324Leu
ENST00000549247.6:n.744G>T
ENST00000551114.2:n.647G>T
ENST00000553106.5:c.985G>T	ENSP00000448059.1:p.Val329Leu
ENST00000635477.1:c.89G>T
ENST00000635528.1:n.500G>T
NM_000277.1:c.985G>T	NP_000268.1:p.Val329Leu
XM_011538422.1:c.928G>T	XP_011536724.1:p.Val310Leu
NM_000277.2:c.985G>T	NP_000268.1:p.Val329Leu
NM_001354304.1:c.985G>T	NP_001341233.1:p.Val329Leu
NM_000277.3:c.985G>T MANE Select	NP_000268.1:p.Val329Leu
NM_001354304.2:c.985G>T	NP_001341233.1:p.Val329Leu