Canonical Allele Identifier: CA362377041

Gene: B4GALT7

Linked Data

• dbSNP Id: rs1318350107
• gnomAD v2: 5-177036005-C-A
• gnomAD v4: 5-177609004-C-A
• MyVariant Identifiers: chr5:g.177036005C>A (hg19) ; chr5:g.177609004C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177609004C>A , CM000667.2:g.177609004C>A	GRCh38
NC_000005.9:g.177036005C>A , CM000667.1:g.177036005C>A	GRCh37
NC_000005.8:g.176968611C>A	NCBI36
NG_015977.1:g.13887C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000029410.10:c.818C>A MANE Select	ENSP00000029410.5:p.Ala273Asp
ENST00000029410.9:c.818C>A	ENSP00000029410.5:p.Ala273Asp
ENST00000505145.1:n.1916C>A
ENST00000505433.5:c.*324C>A	ENSP00000425591.1:n.*324C>A
ENST00000515353.1:n.1640C>A
NM_007255.2:c.818C>A	NP_009186.1:p.Ala273Asp
XM_005265805.2:c.476C>A	XP_005265862.1:p.Ala159Asp
XM_006714816.2:c.338C>A	XP_006714879.1:p.Ala113Asp
XM_011534421.1:c.476C>A	XP_011532723.1:p.Ala159Asp
XM_006714816.4:c.338C>A	XP_006714879.1:p.Ala113Asp
XM_017008999.2:c.476C>A	XP_016864488.1:p.Ala159Asp
NM_007255.3:c.818C>A MANE Select	NP_009186.1:p.Ala273Asp