Canonical Allele Identifier: CA3586405

Gene: B4GALT7

Linked Data

• dbSNP Id: rs767582708
• ExAC: 5:177031341 C / A
• MyVariant Identifiers: chr5:g.177031341C>A (hg19) ; chr5:g.177604340C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177604340C>A , CM000667.2:g.177604340C>A	GRCh38
NC_000005.9:g.177031341C>A , CM000667.1:g.177031341C>A	GRCh37
NC_000005.8:g.176963947C>A	NCBI36
NG_015977.1:g.9223C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000029410.10:c.212C>A MANE Select	ENSP00000029410.5:p.Pro71His
ENST00000029410.9:c.212C>A	ENSP00000029410.5:p.Pro71His
ENST00000502420.1:n.191C>A
ENST00000505433.5:c.212C>A	ENSP00000425591.1:p.Pro71His
ENST00000505468.1:c.-131C>A	ENSP00000420886.1:n.-131C>A
ENST00000507061.1:c.29C>A	ENSP00000423868.1:p.Pro10His
ENST00000510761.1:c.-131C>A	ENSP00000423438.1:n.-131C>A
NM_007255.2:c.212C>A	NP_009186.1:p.Pro71His
XM_005265805.2:c.-131C>A	XP_005265862.1:n.-131C>A
XM_006714816.2:c.-288C>A	XP_006714879.1:n.-288C>A
XM_011534421.1:c.-131C>A	XP_011532723.1:n.-131C>A
XM_006714816.4:c.-288C>A	XP_006714879.1:n.-288C>A
XM_017008999.2:c.-131C>A	XP_016864488.1:n.-131C>A
NM_007255.3:c.212C>A MANE Select	NP_009186.1:p.Pro71His