Canonical Allele Identifier: CA362377062
Gene: B4GALT7 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.177609008A>C , CM000667.2:g.177609008A>C GRCh38
NC_000005.9:g.177036009A>C , CM000667.1:g.177036009A>C GRCh37
NC_000005.8:g.176968615A>C NCBI36
NG_015977.1:g.13891A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000029410.10:c.822A>C MANE Select ENSP00000029410.5:p.Gln274His
ENST00000029410.9:c.822A>C ENSP00000029410.5:p.Gln274His
ENST00000505145.1:n.1920A>C
ENST00000505433.5:c.*328A>C ENSP00000425591.1:n.*328A>C
ENST00000515353.1:n.1644A>C
NM_007255.2:c.822A>C NP_009186.1:p.Gln274His
XM_005265805.2:c.480A>C XP_005265862.1:p.Gln160His
XM_006714816.2:c.342A>C XP_006714879.1:p.Gln114His
XM_011534421.1:c.480A>C XP_011532723.1:p.Gln160His
XM_006714816.4:c.342A>C XP_006714879.1:p.Gln114His
XM_017008999.2:c.480A>C XP_016864488.1:p.Gln160His
NM_007255.3:c.822A>C MANE Select NP_009186.1:p.Gln274His