Canonical Allele Identifier: CA526249573

Gene: PHGDH

Linked Data

• ClinVar Variation Id: 2087437
• ClinVar RCV Id: RCV003000029
• dbSNP Id: rs1557978852
• gnomAD v2: 1-120279802-CA-C
• gnomAD v4: 1-119737179-CA-C
• MyVariant Identifiers: chr1:g.120279803del (hg19) ; chr1:g.119737180del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119737180del , CM000663.2:g.119737180del	GRCh38
NC_000001.10:g.120279803del , CM000663.1:g.120279803del	GRCh37
NC_000001.9:g.120081326del	NCBI36
NG_009188.1:g.30385del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.859del	ENSP00000358417.5:p.Ser287AlafsTer21
ENST00000641023.2:c.859del MANE Select	ENSP00000493175.1:p.Ser287AlafsTer21
ENST00000641074.1:c.859del	ENSP00000493446.1:p.Ser287AlafsTer21
ENST00000641115.1:c.859del	ENSP00000493264.1:p.Ser287AlafsTer21
ENST00000641213.1:c.*512del	ENSP00000493079.1:n.*512del
ENST00000641314.1:n.844del
ENST00000641375.1:c.*695del	ENSP00000493089.1:n.*695del
ENST00000641597.1:c.859del	ENSP00000493382.1:p.Ser287AlafsTer21
ENST00000641756.1:c.*603del	ENSP00000493147.1:n.*603del
ENST00000641811.1:c.615del
ENST00000641891.1:c.*685del	ENSP00000493288.1:n.*685del
ENST00000641927.1:n.799del
ENST00000641947.1:c.859del	ENSP00000492994.1:p.Ser287AlafsTer21
ENST00000642021.1:n.981del
ENST00000369407.3:c.757del	ENSP00000358415.3:p.Ser253AlafsTer21
ENST00000369409.8:c.859del	ENSP00000358417.4:p.Ser287AlafsTer21
NM_006623.3:c.859del	NP_006614.2:p.Ser287AlafsTer21
XM_011541226.1:c.1081del	XP_011539528.1:p.Ser361AlafsTer21
XM_011541227.1:c.1003del	XP_011539529.1:p.Ser335AlafsTer21
XM_011541228.1:c.970del	XP_011539530.1:p.Ser324AlafsTer21
XM_011541229.1:c.796del	XP_011539531.1:p.Ser266AlafsTer21
XM_011541230.1:c.574del	XP_011539532.1:p.Ser192AlafsTer21
XM_011541231.1:c.565del	XP_011539533.1:p.Ser189AlafsTer21
XM_011541226.2:c.1081del	XP_011539528.1:p.Ser361AlafsTer21
XM_011541227.2:c.1003del	XP_011539529.1:p.Ser335AlafsTer21
XM_011541228.2:c.970del	XP_011539530.1:p.Ser324AlafsTer21
XM_011541231.2:c.565del	XP_011539533.1:p.Ser189AlafsTer21
XM_024446338.1:c.970del	XP_024302106.1:p.Ser324AlafsTer21
NM_006623.4:c.859del MANE Select	NP_006614.2:p.Ser287AlafsTer21