Canonical Allele Identifier: CA341854244

Gene: PHGDH

Linked Data

• gnomAD v4: 1-119743921-T-C
• MyVariant Identifiers: chr1:g.120286544T>C (hg19) ; chr1:g.119743921T>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.1502T>C	ENSP00000358417.5:p.Leu501Pro
ENST00000641023.2:c.1483T>C MANE Select	ENSP00000493175.1:p.Tyr495His
ENST00000641074.1:c.*62T>C	ENSP00000493446.1:n.*62T>C
ENST00000641115.1:c.1219T>C	ENSP00000493264.1:p.Tyr407His
ENST00000641213.1:c.*1136T>C	ENSP00000493079.1:n.*1136T>C
ENST00000641314.1:n.1468T>C
ENST00000641375.1:c.*1319T>C	ENSP00000493089.1:n.*1319T>C
ENST00000641597.1:c.1483T>C	ENSP00000493382.1:p.Tyr495His
ENST00000641756.1:c.*1227T>C	ENSP00000493147.1:n.*1227T>C
ENST00000641811.1:c.737T>C
ENST00000641891.1:c.*1309T>C	ENSP00000493288.1:n.*1309T>C
ENST00000641927.1:n.1423T>C
ENST00000641947.1:c.1462T>C	ENSP00000492994.1:p.Tyr488His
ENST00000642021.1:n.2514T>C
ENST00000369407.3:c.1381T>C	ENSP00000358415.3:p.Tyr461His
ENST00000369409.8:c.1483T>C	ENSP00000358417.4:p.Tyr495His
ENST00000482968.1:n.1462T>C
NM_006623.3:c.1483T>C	NP_006614.2:p.Tyr495His
XM_011541226.1:c.1705T>C	XP_011539528.1:p.Tyr569His
XM_011541227.1:c.1627T>C	XP_011539529.1:p.Tyr543His
XM_011541228.1:c.1594T>C	XP_011539530.1:p.Tyr532His
XM_011541229.1:c.1420T>C	XP_011539531.1:p.Tyr474His
XM_011541230.1:c.1198T>C	XP_011539532.1:p.Tyr400His
XM_011541231.1:c.1189T>C	XP_011539533.1:p.Tyr397His
XM_011541226.2:c.1705T>C	XP_011539528.1:p.Tyr569His
XM_011541227.2:c.1627T>C	XP_011539529.1:p.Tyr543His
XM_011541228.2:c.1594T>C	XP_011539530.1:p.Tyr532His
XM_011541231.2:c.1189T>C	XP_011539533.1:p.Tyr397His
XM_024446338.1:c.1594T>C	XP_024302106.1:p.Tyr532His
NM_006623.4:c.1483T>C MANE Select	NP_006614.2:p.Tyr495His