Canonical Allele Identifier: CA1192434369

Gene: PHGDH

Linked Data

• dbSNP Id: rs1651995513

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119737460_119737474del , CM000663.2:g.119737460_119737474del	GRCh38
NC_000001.10:g.120280083_120280097del , CM000663.1:g.120280083_120280097del	GRCh37
NC_000001.9:g.120081606_120081620del	NCBI36
NG_009188.1:g.30665_30679del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.945+194_945+208del	ENSP00000358417.5:n.945+194_945+208del
ENST00000641023.2:c.945+194_945+208del MANE Select	ENSP00000493175.1:n.945+194_945+208del
ENST00000641074.1:c.945+194_945+208del	ENSP00000493446.1:n.945+194_945+208del
ENST00000641115.1:c.945+194_945+208del	ENSP00000493264.1:n.945+194_945+208del
ENST00000641213.1:c.*598+194_*598+208del	ENSP00000493079.1:n.*598+194_*598+208del
ENST00000641314.1:n.930+194_930+208del
ENST00000641375.1:c.*781+194_*781+208del	ENSP00000493089.1:n.*781+194_*781+208del
ENST00000641597.1:c.945+194_945+208del	ENSP00000493382.1:n.945+194_945+208del
ENST00000641756.1:c.*689+194_*689+208del	ENSP00000493147.1:n.*689+194_*689+208del
ENST00000641811.1:c.701+194_701+208del
ENST00000641891.1:c.*771+194_*771+208del	ENSP00000493288.1:n.*771+194_*771+208del
ENST00000641927.1:n.885+194_885+208del
ENST00000641939.1:n.48+194_48+208del
ENST00000641947.1:c.945+194_945+208del	ENSP00000492994.1:n.945+194_945+208del
ENST00000642021.1:n.1067+194_1067+208del
ENST00000369407.3:c.843+194_843+208del	ENSP00000358415.3:n.843+194_843+208del
ENST00000369409.8:c.945+194_945+208del	ENSP00000358417.4:n.945+194_945+208del
NM_006623.3:c.945+194_945+208del	NP_006614.2:n.945+194_945+208del
XM_011541226.1:c.1167+194_1167+208del	XP_011539528.1:n.1167+194_1167+208del
XM_011541227.1:c.1089+194_1089+208del	XP_011539529.1:n.1089+194_1089+208del
XM_011541228.1:c.1056+194_1056+208del	XP_011539530.1:n.1056+194_1056+208del
XM_011541229.1:c.882+194_882+208del	XP_011539531.1:n.882+194_882+208del
XM_011541230.1:c.660+194_660+208del	XP_011539532.1:n.660+194_660+208del
XM_011541231.1:c.651+194_651+208del	XP_011539533.1:n.651+194_651+208del
XM_011541226.2:c.1167+194_1167+208del	XP_011539528.1:n.1167+194_1167+208del
XM_011541227.2:c.1089+194_1089+208del	XP_011539529.1:n.1089+194_1089+208del
XM_011541228.2:c.1056+194_1056+208del	XP_011539530.1:n.1056+194_1056+208del
XM_011541231.2:c.651+194_651+208del	XP_011539533.1:n.651+194_651+208del
XM_024446338.1:c.1056+194_1056+208del	XP_024302106.1:n.1056+194_1056+208del
NM_006623.4:c.945+194_945+208del MANE Select	NP_006614.2:n.945+194_945+208del