Canonical Allele Identifier: CA362376714

Gene: B4GALT7

Linked Data

• MyVariant Identifiers: chr5:g.177035933C>A (hg19) ; chr5:g.177608932C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177608932C>A , CM000667.2:g.177608932C>A	GRCh38
NC_000005.9:g.177035933C>A , CM000667.1:g.177035933C>A	GRCh37
NC_000005.8:g.176968539C>A	NCBI36
NG_015977.1:g.13815C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000029410.10:c.746C>A MANE Select	ENSP00000029410.5:p.Thr249Lys
ENST00000029410.9:c.746C>A	ENSP00000029410.5:p.Thr249Lys
ENST00000505145.1:n.1844C>A
ENST00000505433.5:c.*252C>A	ENSP00000425591.1:n.*252C>A
ENST00000515353.1:n.1568C>A
NM_007255.2:c.746C>A	NP_009186.1:p.Thr249Lys
XM_005265805.2:c.404C>A	XP_005265862.1:p.Thr135Lys
XM_006714816.2:c.266C>A	XP_006714879.1:p.Thr89Lys
XM_011534421.1:c.404C>A	XP_011532723.1:p.Thr135Lys
XM_006714816.4:c.266C>A	XP_006714879.1:p.Thr89Lys
XM_017008999.2:c.404C>A	XP_016864488.1:p.Thr135Lys
NM_007255.3:c.746C>A MANE Select	NP_009186.1:p.Thr249Lys