Canonical Allele Identifier: CA132896614

Gene: B4GALT7

Linked Data

• dbSNP Id: rs527746954
• gnomAD v2: 5-177035890-G-A
• gnomAD v3: 5-177608889-G-A
• gnomAD v4: 5-177608889-G-A
• MyVariant Identifiers: chr5:g.177035890G>A (hg19) ; chr5:g.177608889G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177608889G>A , CM000667.2:g.177608889G>A	GRCh38
NC_000005.9:g.177035890G>A , CM000667.1:g.177035890G>A	GRCh37
NC_000005.8:g.176968496G>A	NCBI36
NG_015977.1:g.13772G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000029410.10:c.724-21G>A MANE Select	ENSP00000029410.5:n.724-21G>A
ENST00000029410.9:c.724-21G>A	ENSP00000029410.5:n.724-21G>A
ENST00000505145.1:n.1822-21G>A
ENST00000505433.5:c.*230-21G>A	ENSP00000425591.1:n.*230-21G>A
ENST00000515353.1:n.1525G>A
NM_007255.2:c.724-21G>A	NP_009186.1:n.724-21G>A
XM_005265805.2:c.382-21G>A	XP_005265862.1:n.382-21G>A
XM_006714816.2:c.244-21G>A	XP_006714879.1:n.244-21G>A
XM_011534421.1:c.382-21G>A	XP_011532723.1:n.382-21G>A
XM_006714816.4:c.244-21G>A	XP_006714879.1:n.244-21G>A
XM_017008999.2:c.382-21G>A	XP_016864488.1:n.382-21G>A
NM_007255.3:c.724-21G>A MANE Select	NP_009186.1:n.724-21G>A