Canonical Allele Identifier: CA447985333

Gene: B4GALT7

Linked Data

• gnomAD v4: 5-177608993-G-A
• MyVariant Identifiers: chr5:g.177035994G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177608993G>A , CM000667.2:g.177608993G>A	GRCh38
NC_000005.9:g.177035994G>A , CM000667.1:g.177035994G>A	GRCh37
NC_000005.8:g.176968600G>A	NCBI36
NG_015977.1:g.13876G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000029410.10:c.807G>A MANE Select	ENSP00000029410.5:p.Lys269=
ENST00000029410.9:c.807G>A	ENSP00000029410.5:p.Lys269=
ENST00000505145.1:n.1905G>A
ENST00000505433.5:c.*313G>A	ENSP00000425591.1:n.*313G>A
ENST00000515353.1:n.1629G>A
NM_007255.2:c.807G>A	NP_009186.1:p.Lys269=
XM_005265805.2:c.465G>A	XP_005265862.1:p.Lys155=
XM_006714816.2:c.327G>A	XP_006714879.1:p.Lys109=
XM_011534421.1:c.465G>A	XP_011532723.1:p.Lys155=
XM_006714816.4:c.327G>A	XP_006714879.1:p.Lys109=
XM_017008999.2:c.465G>A	XP_016864488.1:p.Lys155=
NM_007255.3:c.807G>A MANE Select	NP_009186.1:p.Lys269=