Canonical Allele Identifier: CA1192434261

Gene: PHGDH

Linked Data

• dbSNP Id: rs1651987415
• gnomAD v4: 1-119737306-GGGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119737311_119737313del , CM000663.2:g.119737311_119737313del	GRCh38
NC_000001.10:g.120279934_120279936del , CM000663.1:g.120279934_120279936del	GRCh37
NC_000001.9:g.120081457_120081459del	NCBI36
NG_009188.1:g.30516_30518del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.945+45_945+47del	ENSP00000358417.5:n.945+45_945+47del
ENST00000641023.2:c.945+45_945+47del MANE Select	ENSP00000493175.1:n.945+45_945+47del
ENST00000641074.1:c.945+45_945+47del	ENSP00000493446.1:n.945+45_945+47del
ENST00000641115.1:c.945+45_945+47del	ENSP00000493264.1:n.945+45_945+47del
ENST00000641213.1:c.*598+45_*598+47del	ENSP00000493079.1:n.*598+45_*598+47del
ENST00000641314.1:n.930+45_930+47del
ENST00000641375.1:c.*781+45_*781+47del	ENSP00000493089.1:n.*781+45_*781+47del
ENST00000641597.1:c.945+45_945+47del	ENSP00000493382.1:n.945+45_945+47del
ENST00000641756.1:c.*689+45_*689+47del	ENSP00000493147.1:n.*689+45_*689+47del
ENST00000641811.1:c.701+45_701+47del
ENST00000641891.1:c.*771+45_*771+47del	ENSP00000493288.1:n.*771+45_*771+47del
ENST00000641927.1:n.885+45_885+47del
ENST00000641939.1:n.48+45_48+47del
ENST00000641947.1:c.945+45_945+47del	ENSP00000492994.1:n.945+45_945+47del
ENST00000642021.1:n.1067+45_1067+47del
ENST00000369407.3:c.843+45_843+47del	ENSP00000358415.3:n.843+45_843+47del
ENST00000369409.8:c.945+45_945+47del	ENSP00000358417.4:n.945+45_945+47del
NM_006623.3:c.945+45_945+47del	NP_006614.2:n.945+45_945+47del
XM_011541226.1:c.1167+45_1167+47del	XP_011539528.1:n.1167+45_1167+47del
XM_011541227.1:c.1089+45_1089+47del	XP_011539529.1:n.1089+45_1089+47del
XM_011541228.1:c.1056+45_1056+47del	XP_011539530.1:n.1056+45_1056+47del
XM_011541229.1:c.882+45_882+47del	XP_011539531.1:n.882+45_882+47del
XM_011541230.1:c.660+45_660+47del	XP_011539532.1:n.660+45_660+47del
XM_011541231.1:c.651+45_651+47del	XP_011539533.1:n.651+45_651+47del
XM_011541226.2:c.1167+45_1167+47del	XP_011539528.1:n.1167+45_1167+47del
XM_011541227.2:c.1089+45_1089+47del	XP_011539529.1:n.1089+45_1089+47del
XM_011541228.2:c.1056+45_1056+47del	XP_011539530.1:n.1056+45_1056+47del
XM_011541231.2:c.651+45_651+47del	XP_011539533.1:n.651+45_651+47del
XM_024446338.1:c.1056+45_1056+47del	XP_024302106.1:n.1056+45_1056+47del
NM_006623.4:c.945+45_945+47del MANE Select	NP_006614.2:n.945+45_945+47del