Canonical Allele Identifier: CA3586639

Gene: B4GALT7

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177608599C>T , CM000667.2:g.177608599C>T	GRCh38
NC_000005.9:g.177035600C>T , CM000667.1:g.177035600C>T	GRCh37
NC_000005.8:g.176968206C>T	NCBI36
NG_015977.1:g.13482C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000029410.10:c.700C>T MANE Select	ENSP00000029410.5:p.Arg234Cys
ENST00000029410.9:c.700C>T	ENSP00000029410.5:p.Arg234Cys
ENST00000505145.1:n.1798C>T
ENST00000505433.5:c.*206C>T	ENSP00000425591.1:n.*206C>T
ENST00000515353.1:n.1235C>T
NM_007255.2:c.700C>T	NP_009186.1:p.Arg234Cys
XM_005265805.2:c.358C>T	XP_005265862.1:p.Arg120Cys
XM_006714816.2:c.220C>T	XP_006714879.1:p.Arg74Cys
XM_011534421.1:c.358C>T	XP_011532723.1:p.Arg120Cys
XM_006714816.4:c.220C>T	XP_006714879.1:p.Arg74Cys
XM_017008999.2:c.358C>T	XP_016864488.1:p.Arg120Cys
NM_007255.3:c.700C>T MANE Select	NP_009186.1:p.Arg234Cys