Canonical Allele Identifier: CA15502515

Gene: C1GALT1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.7243938G>A , CM000669.2:g.7243938G>A	GRCh38
NC_000007.13:g.7283569G>A , CM000669.1:g.7283569G>A	GRCh37
NC_000007.12:g.7250094G>A	NCBI36
NG_027732.1:g.66324G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223122.4:c.*211G>A	ENSP00000223122.2:n.*211G>A
ENST00000436587.7:c.*211G>A MANE Select	ENSP00000389176.2:n.*211G>A
ENST00000223122.3:c.*211G>A	ENSP00000223122.2:n.*211G>A
ENST00000436587.6:c.*211G>A	ENSP00000389176.2:n.*211G>A
NM_020156.4:c.*211G>A	NP_064541.1:n.*211G>A
XM_005249812.1:c.*211G>A	XP_005249869.1:n.*211G>A
XM_011515453.1:c.*211G>A	XP_011513755.1:n.*211G>A
XM_011515454.1:c.*211G>A	XP_011513756.1:n.*211G>A
XM_011515455.1:c.*211G>A	XP_011513757.1:n.*211G>A
XM_011515456.1:c.*211G>A	XP_011513758.1:n.*211G>A
XM_011515453.2:c.*211G>A	XP_011513755.1:n.*211G>A
XM_011515455.2:c.*211G>A	XP_011513757.1:n.*211G>A
XM_011515456.2:c.*211G>A	XP_011513758.1:n.*211G>A
XM_017012442.1:c.*211G>A	XP_016867931.1:n.*211G>A
XM_017012444.1:c.*211G>A	XP_016867933.1:n.*211G>A
XM_017012445.1:c.*211G>A	XP_016867934.1:n.*211G>A
XM_017012446.1:c.*211G>A	XP_016867935.1:n.*211G>A
XM_017012447.1:c.*211G>A	XP_016867936.1:n.*211G>A
XM_017012448.1:c.*211G>A	XP_016867937.1:n.*211G>A
XM_017012449.2:c.*211G>A	XP_016867938.1:n.*211G>A
XM_024446838.1:c.*211G>A	XP_024302606.1:n.*211G>A
NM_020156.5:c.*211G>A MANE Select	NP_064541.1:n.*211G>A