Canonical Allele Identifier: CA3586552

Gene: B4GALT7

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177607522C>T , CM000667.2:g.177607522C>T	GRCh38
NC_000005.9:g.177034523C>T , CM000667.1:g.177034523C>T	GRCh37
NC_000005.8:g.176967129C>T	NCBI36
NG_015977.1:g.12405C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000029410.10:c.634C>T MANE Select	ENSP00000029410.5:p.Arg212Trp
ENST00000029410.9:c.634C>T	ENSP00000029410.5:p.Arg212Trp
ENST00000502420.1:n.613C>T
ENST00000505145.1:n.1732C>T
ENST00000505433.5:c.*140C>T	ENSP00000425591.1:n.*140C>T
ENST00000515353.1:n.158C>T
NM_007255.2:c.634C>T	NP_009186.1:p.Arg212Trp
XM_005265805.2:c.292C>T	XP_005265862.1:p.Arg98Trp
XM_006714816.2:c.154C>T	XP_006714879.1:p.Arg52Trp
XM_011534421.1:c.292C>T	XP_011532723.1:p.Arg98Trp
XM_006714816.4:c.154C>T	XP_006714879.1:p.Arg52Trp
XM_017008999.2:c.292C>T	XP_016864488.1:p.Arg98Trp
NM_007255.3:c.634C>T MANE Select	NP_009186.1:p.Arg212Trp