Canonical Allele Identifier: CA2578500132
Gene: B4GALT7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.177608697A>C , CM000667.2:g.177608697A>C GRCh38
NC_000005.9:g.177035698A>C , CM000667.1:g.177035698A>C GRCh37
NC_000005.8:g.176968304A>C NCBI36
NG_015977.1:g.13580A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000029410.10:c.723+75A>C MANE Select ENSP00000029410.5:n.723+75A>C
ENST00000029410.9:c.723+75A>C ENSP00000029410.5:n.723+75A>C
ENST00000505145.1:n.1821+75A>C
ENST00000505433.5:c.*229+75A>C ENSP00000425591.1:n.*229+75A>C
ENST00000515353.1:n.1333A>C
NM_007255.2:c.723+75A>C NP_009186.1:n.723+75A>C
XM_005265805.2:c.381+75A>C XP_005265862.1:n.381+75A>C
XM_006714816.2:c.243+75A>C XP_006714879.1:n.243+75A>C
XM_011534421.1:c.381+75A>C XP_011532723.1:n.381+75A>C
XM_006714816.4:c.243+75A>C XP_006714879.1:n.243+75A>C
XM_017008999.2:c.381+75A>C XP_016864488.1:n.381+75A>C
NM_007255.3:c.723+75A>C MANE Select NP_009186.1:n.723+75A>C