Canonical Allele Identifier: CA341851268

Gene: PHGDH

Linked Data

• MyVariant Identifiers: chr1:g.120279811G>T (hg19) ; chr1:g.119737188G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119737188G>T , CM000663.2:g.119737188G>T	GRCh38
NC_000001.10:g.120279811G>T , CM000663.1:g.120279811G>T	GRCh37
NC_000001.9:g.120081334G>T	NCBI36
NG_009188.1:g.30393G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.867G>T	ENSP00000358417.5:p.Lys289Asn
ENST00000641023.2:c.867G>T MANE Select	ENSP00000493175.1:p.Lys289Asn
ENST00000641074.1:c.867G>T	ENSP00000493446.1:p.Lys289Asn
ENST00000641115.1:c.867G>T	ENSP00000493264.1:p.Lys289Asn
ENST00000641213.1:c.*520G>T	ENSP00000493079.1:n.*520G>T
ENST00000641314.1:n.852G>T
ENST00000641375.1:c.*703G>T	ENSP00000493089.1:n.*703G>T
ENST00000641597.1:c.867G>T	ENSP00000493382.1:p.Lys289Asn
ENST00000641756.1:c.*611G>T	ENSP00000493147.1:n.*611G>T
ENST00000641811.1:c.623G>T
ENST00000641891.1:c.*693G>T	ENSP00000493288.1:n.*693G>T
ENST00000641927.1:n.807G>T
ENST00000641947.1:c.867G>T	ENSP00000492994.1:p.Lys289Asn
ENST00000642021.1:n.989G>T
ENST00000369407.3:c.765G>T	ENSP00000358415.3:p.Lys255Asn
ENST00000369409.8:c.867G>T	ENSP00000358417.4:p.Lys289Asn
NM_006623.3:c.867G>T	NP_006614.2:p.Lys289Asn
XM_011541226.1:c.1089G>T	XP_011539528.1:p.Lys363Asn
XM_011541227.1:c.1011G>T	XP_011539529.1:p.Lys337Asn
XM_011541228.1:c.978G>T	XP_011539530.1:p.Lys326Asn
XM_011541229.1:c.804G>T	XP_011539531.1:p.Lys268Asn
XM_011541230.1:c.582G>T	XP_011539532.1:p.Lys194Asn
XM_011541231.1:c.573G>T	XP_011539533.1:p.Lys191Asn
XM_011541226.2:c.1089G>T	XP_011539528.1:p.Lys363Asn
XM_011541227.2:c.1011G>T	XP_011539529.1:p.Lys337Asn
XM_011541228.2:c.978G>T	XP_011539530.1:p.Lys326Asn
XM_011541231.2:c.573G>T	XP_011539533.1:p.Lys191Asn
XM_024446338.1:c.978G>T	XP_024302106.1:p.Lys326Asn
NM_006623.4:c.867G>T MANE Select	NP_006614.2:p.Lys289Asn