Canonical Allele Identifier: CA362373365

Gene: B4GALT7

Linked Data

• dbSNP Id: rs777092684
• gnomAD v4: 5-177604367-C-A
• MyVariant Identifiers: chr5:g.177031368C>A (hg19) ; chr5:g.177604367C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177604367C>A , CM000667.2:g.177604367C>A	GRCh38
NC_000005.9:g.177031368C>A , CM000667.1:g.177031368C>A	GRCh37
NC_000005.8:g.176963974C>A	NCBI36
NG_015977.1:g.9250C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000029410.10:c.239C>A MANE Select	ENSP00000029410.5:p.Pro80His
ENST00000029410.9:c.239C>A	ENSP00000029410.5:p.Pro80His
ENST00000502420.1:n.218C>A
ENST00000505433.5:c.239C>A	ENSP00000425591.1:p.Pro80His
ENST00000505468.1:c.-104C>A	ENSP00000420886.1:n.-104C>A
ENST00000507061.1:c.56C>A	ENSP00000423868.1:p.Pro19His
ENST00000510761.1:c.-104C>A	ENSP00000423438.1:n.-104C>A
NM_007255.2:c.239C>A	NP_009186.1:p.Pro80His
XM_005265805.2:c.-104C>A	XP_005265862.1:n.-104C>A
XM_006714816.2:c.-261C>A	XP_006714879.1:n.-261C>A
XM_011534421.1:c.-104C>A	XP_011532723.1:n.-104C>A
XM_006714816.4:c.-261C>A	XP_006714879.1:n.-261C>A
XM_017008999.2:c.-104C>A	XP_016864488.1:n.-104C>A
NM_007255.3:c.239C>A MANE Select	NP_009186.1:p.Pro80His