Canonical Allele Identifier: CA341854241

Gene: PHGDH

Linked Data

• MyVariant Identifiers: chr1:g.120286544T>A (hg19) ; chr1:g.119743921T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119743921T>A , CM000663.2:g.119743921T>A	GRCh38
NC_000001.10:g.120286544T>A , CM000663.1:g.120286544T>A	GRCh37
NC_000001.9:g.120088067T>A	NCBI36
NG_009188.1:g.37126T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.1502T>A	ENSP00000358417.5:p.Leu501Gln
ENST00000641023.2:c.1483T>A MANE Select	ENSP00000493175.1:p.Tyr495Asn
ENST00000641074.1:c.*62T>A	ENSP00000493446.1:n.*62T>A
ENST00000641115.1:c.1219T>A	ENSP00000493264.1:p.Tyr407Asn
ENST00000641213.1:c.*1136T>A	ENSP00000493079.1:n.*1136T>A
ENST00000641314.1:n.1468T>A
ENST00000641375.1:c.*1319T>A	ENSP00000493089.1:n.*1319T>A
ENST00000641597.1:c.1483T>A	ENSP00000493382.1:p.Tyr495Asn
ENST00000641756.1:c.*1227T>A	ENSP00000493147.1:n.*1227T>A
ENST00000641811.1:c.737T>A
ENST00000641891.1:c.*1309T>A	ENSP00000493288.1:n.*1309T>A
ENST00000641927.1:n.1423T>A
ENST00000641947.1:c.1462T>A	ENSP00000492994.1:p.Tyr488Asn
ENST00000642021.1:n.2514T>A
ENST00000369407.3:c.1381T>A	ENSP00000358415.3:p.Tyr461Asn
ENST00000369409.8:c.1483T>A	ENSP00000358417.4:p.Tyr495Asn
ENST00000482968.1:n.1462T>A
NM_006623.3:c.1483T>A	NP_006614.2:p.Tyr495Asn
XM_011541226.1:c.1705T>A	XP_011539528.1:p.Tyr569Asn
XM_011541227.1:c.1627T>A	XP_011539529.1:p.Tyr543Asn
XM_011541228.1:c.1594T>A	XP_011539530.1:p.Tyr532Asn
XM_011541229.1:c.1420T>A	XP_011539531.1:p.Tyr474Asn
XM_011541230.1:c.1198T>A	XP_011539532.1:p.Tyr400Asn
XM_011541231.1:c.1189T>A	XP_011539533.1:p.Tyr397Asn
XM_011541226.2:c.1705T>A	XP_011539528.1:p.Tyr569Asn
XM_011541227.2:c.1627T>A	XP_011539529.1:p.Tyr543Asn
XM_011541228.2:c.1594T>A	XP_011539530.1:p.Tyr532Asn
XM_011541231.2:c.1189T>A	XP_011539533.1:p.Tyr397Asn
XM_024446338.1:c.1594T>A	XP_024302106.1:p.Tyr532Asn
NM_006623.4:c.1483T>A MANE Select	NP_006614.2:p.Tyr495Asn