Canonical Allele Identifier: CA2578500172

Gene: B4GALT7

Linked Data

• gnomAD v4: 5-177609067-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177609067G>A , CM000667.2:g.177609067G>A	GRCh38
NC_000005.9:g.177036068G>A , CM000667.1:g.177036068G>A	GRCh37
NC_000005.8:g.176968674G>A	NCBI36
NG_015977.1:g.13950G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000029410.10:c.828+53G>A MANE Select	ENSP00000029410.5:n.828+53G>A
ENST00000029410.9:c.828+53G>A	ENSP00000029410.5:n.828+53G>A
ENST00000505145.1:n.1926+53G>A
ENST00000505433.5:c.*334+53G>A	ENSP00000425591.1:n.*334+53G>A
ENST00000515353.1:n.1650+53G>A
NM_007255.2:c.828+53G>A	NP_009186.1:n.828+53G>A
XM_005265805.2:c.486+53G>A	XP_005265862.1:n.486+53G>A
XM_006714816.2:c.348+53G>A	XP_006714879.1:n.348+53G>A
XM_011534421.1:c.486+53G>A	XP_011532723.1:n.486+53G>A
XM_006714816.4:c.348+53G>A	XP_006714879.1:n.348+53G>A
XM_017008999.2:c.486+53G>A	XP_016864488.1:n.486+53G>A
NM_007255.3:c.828+53G>A MANE Select	NP_009186.1:n.828+53G>A