Canonical Allele Identifier: CA362376894

Gene: B4GALT7

Linked Data

• MyVariant Identifiers: chr5:g.177035967C>A (hg19) ; chr5:g.177608966C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177608966C>A , CM000667.2:g.177608966C>A	GRCh38
NC_000005.9:g.177035967C>A , CM000667.1:g.177035967C>A	GRCh37
NC_000005.8:g.176968573C>A	NCBI36
NG_015977.1:g.13849C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000029410.10:c.780C>A MANE Select	ENSP00000029410.5:p.Asp260Glu
ENST00000029410.9:c.780C>A	ENSP00000029410.5:p.Asp260Glu
ENST00000505145.1:n.1878C>A
ENST00000505433.5:c.*286C>A	ENSP00000425591.1:n.*286C>A
ENST00000515353.1:n.1602C>A
NM_007255.2:c.780C>A	NP_009186.1:p.Asp260Glu
XM_005265805.2:c.438C>A	XP_005265862.1:p.Asp146Glu
XM_006714816.2:c.300C>A	XP_006714879.1:p.Asp100Glu
XM_011534421.1:c.438C>A	XP_011532723.1:p.Asp146Glu
XM_006714816.4:c.300C>A	XP_006714879.1:p.Asp100Glu
XM_017008999.2:c.438C>A	XP_016864488.1:p.Asp146Glu
NM_007255.3:c.780C>A MANE Select	NP_009186.1:p.Asp260Glu