Canonical Allele Identifier: CA447985340
Gene: B4GALT7 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.177036003A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.177609002A>G , CM000667.2:g.177609002A>G GRCh38
NC_000005.9:g.177036003A>G , CM000667.1:g.177036003A>G GRCh37
NC_000005.8:g.176968609A>G NCBI36
NG_015977.1:g.13885A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000029410.10:c.816A>G MANE Select ENSP00000029410.5:p.Ala272=
ENST00000029410.9:c.816A>G ENSP00000029410.5:p.Ala272=
ENST00000505145.1:n.1914A>G
ENST00000505433.5:c.*322A>G ENSP00000425591.1:n.*322A>G
ENST00000515353.1:n.1638A>G
NM_007255.2:c.816A>G NP_009186.1:p.Ala272=
XM_005265805.2:c.474A>G XP_005265862.1:p.Ala158=
XM_006714816.2:c.336A>G XP_006714879.1:p.Ala112=
XM_011534421.1:c.474A>G XP_011532723.1:p.Ala158=
XM_006714816.4:c.336A>G XP_006714879.1:p.Ala112=
XM_017008999.2:c.474A>G XP_016864488.1:p.Ala158=
NM_007255.3:c.816A>G MANE Select NP_009186.1:p.Ala272=