Canonical Allele Identifier: CA3586731

Gene: B4GALT7

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177609600C>T , CM000667.2:g.177609600C>T	GRCh38
NC_000005.9:g.177036601C>T , CM000667.1:g.177036601C>T	GRCh37
NC_000005.8:g.176969207C>T	NCBI36
NG_015977.1:g.14483C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_007255.3:c.889C>T MANE Select	NP_009186.1:p.Arg297Cys
ENST00000029410.10:c.889C>T MANE Select	ENSP00000029410.5:p.Arg297Cys
NM_007255.2:c.889C>T	NP_009186.1:p.Arg297Cys
ENST00000029410.9:c.889C>T	ENSP00000029410.5:p.Arg297Cys
ENST00000505145.1:n.1987C>T
ENST00000505433.5:c.*395C>T	ENSP00000425591.1:n.*395C>T
ENST00000515353.1:n.1711C>T
XM_005265805.2:c.547C>T	XP_005265862.1:p.Arg183Cys
XM_006714816.2:c.409C>T	XP_006714879.1:p.Arg137Cys
XM_006714816.4:c.409C>T	XP_006714879.1:p.Arg137Cys
XM_011534421.1:c.547C>T	XP_011532723.1:p.Arg183Cys
XM_017008999.2:c.547C>T	XP_016864488.1:p.Arg183Cys