Canonical Allele Identifier: CA341851106

Gene: PHGDH

Linked Data

• dbSNP Id: rs1490577550
• gnomAD v2: 1-120279755-G-T
• gnomAD v4: 1-119737132-G-T
• MyVariant Identifiers: chr1:g.120279755G>T (hg19) ; chr1:g.119737132G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119737132G>T , CM000663.2:g.119737132G>T	GRCh38
NC_000001.10:g.120279755G>T , CM000663.1:g.120279755G>T	GRCh37
NC_000001.9:g.120081278G>T	NCBI36
NG_009188.1:g.30337G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.811G>T	ENSP00000358417.5:p.Ala271Ser
ENST00000469443.2:n.631G>T
ENST00000641023.2:c.811G>T MANE Select	ENSP00000493175.1:p.Ala271Ser
ENST00000641074.1:c.811G>T	ENSP00000493446.1:p.Ala271Ser
ENST00000641115.1:c.811G>T	ENSP00000493264.1:p.Ala271Ser
ENST00000641213.1:c.*464G>T	ENSP00000493079.1:n.*464G>T
ENST00000641314.1:n.796G>T
ENST00000641375.1:c.*647G>T	ENSP00000493089.1:n.*647G>T
ENST00000641597.1:c.811G>T	ENSP00000493382.1:p.Ala271Ser
ENST00000641756.1:c.*555G>T	ENSP00000493147.1:n.*555G>T
ENST00000641811.1:c.567G>T
ENST00000641891.1:c.*637G>T	ENSP00000493288.1:n.*637G>T
ENST00000641927.1:n.751G>T
ENST00000641947.1:c.811G>T	ENSP00000492994.1:p.Ala271Ser
ENST00000642021.1:n.933G>T
ENST00000369407.3:c.709G>T	ENSP00000358415.3:p.Ala237Ser
ENST00000369409.8:c.811G>T	ENSP00000358417.4:p.Ala271Ser
NM_006623.3:c.811G>T	NP_006614.2:p.Ala271Ser
XM_011541226.1:c.1033G>T	XP_011539528.1:p.Ala345Ser
XM_011541227.1:c.955G>T	XP_011539529.1:p.Ala319Ser
XM_011541228.1:c.922G>T	XP_011539530.1:p.Ala308Ser
XM_011541229.1:c.748G>T	XP_011539531.1:p.Ala250Ser
XM_011541230.1:c.526G>T	XP_011539532.1:p.Ala176Ser
XM_011541231.1:c.517G>T	XP_011539533.1:p.Ala173Ser
XM_011541226.2:c.1033G>T	XP_011539528.1:p.Ala345Ser
XM_011541227.2:c.955G>T	XP_011539529.1:p.Ala319Ser
XM_011541228.2:c.922G>T	XP_011539530.1:p.Ala308Ser
XM_011541231.2:c.517G>T	XP_011539533.1:p.Ala173Ser
XM_024446338.1:c.922G>T	XP_024302106.1:p.Ala308Ser
NM_006623.4:c.811G>T MANE Select	NP_006614.2:p.Ala271Ser