Canonical Allele Identifier: CA362374049
Gene: B4GALT7 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.177604472T>G , CM000667.2:g.177604472T>G GRCh38
NC_000005.9:g.177031473T>G , CM000667.1:g.177031473T>G GRCh37
NC_000005.8:g.176964079T>G NCBI36
NG_015977.1:g.9355T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000029410.10:c.344T>G MANE Select ENSP00000029410.5:p.Met115Arg
ENST00000029410.9:c.344T>G ENSP00000029410.5:p.Met115Arg
ENST00000502420.1:n.323T>G
ENST00000505433.5:c.344T>G ENSP00000425591.1:p.Met115Arg
ENST00000505468.1:c.2T>G ENSP00000420886.1:p.Met1Arg
ENST00000507061.1:c.161T>G ENSP00000423868.1:p.Met54Arg
ENST00000510761.1:c.2T>G ENSP00000423438.1:p.Met1Arg
NM_007255.2:c.344T>G NP_009186.1:p.Met115Arg
XM_005265805.2:c.2T>G XP_005265862.1:p.Met1Arg
XM_006714816.2:c.-156T>G XP_006714879.1:n.-156T>G
XM_011534421.1:c.2T>G XP_011532723.1:p.Met1Arg
XM_006714816.4:c.-156T>G XP_006714879.1:n.-156T>G
XM_017008999.2:c.2T>G XP_016864488.1:p.Met1Arg
NM_007255.3:c.344T>G MANE Select NP_009186.1:p.Met115Arg