Canonical Allele Identifier: CA3586684

Gene: B4GALT7

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177608963T>C , CM000667.2:g.177608963T>C	GRCh38
NC_000005.9:g.177035964T>C , CM000667.1:g.177035964T>C	GRCh37
NC_000005.8:g.176968570T>C	NCBI36
NG_015977.1:g.13846T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_007255.3:c.777T>C MANE Select	NP_009186.1:p.His259=
ENST00000029410.10:c.777T>C MANE Select	ENSP00000029410.5:p.His259=
NM_007255.2:c.777T>C	NP_009186.1:p.His259=
ENST00000029410.9:c.777T>C	ENSP00000029410.5:p.His259=
ENST00000505145.1:n.1875T>C
ENST00000505433.5:c.*283T>C	ENSP00000425591.1:n.*283T>C
ENST00000515353.1:n.1599T>C
XM_005265805.2:c.435T>C	XP_005265862.1:p.His145=
XM_006714816.2:c.297T>C	XP_006714879.1:p.His99=
XM_006714816.4:c.297T>C	XP_006714879.1:p.His99=
XM_011534421.1:c.435T>C	XP_011532723.1:p.His145=
XM_017008999.2:c.435T>C	XP_016864488.1:p.His145=