Canonical Allele Identifier: CA447993942
Gene: B4GALT7 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.177034459C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.177607458C>G , CM000667.2:g.177607458C>G GRCh38
NC_000005.9:g.177034459C>G , CM000667.1:g.177034459C>G GRCh37
NC_000005.8:g.176967065C>G NCBI36
NG_015977.1:g.12341C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000029410.10:c.570C>G MANE Select ENSP00000029410.5:p.Leu190=
ENST00000029410.9:c.570C>G ENSP00000029410.5:p.Leu190=
ENST00000502420.1:n.549C>G
ENST00000505145.1:n.1668C>G
ENST00000505433.5:c.*76C>G ENSP00000425591.1:n.*76C>G
ENST00000515353.1:n.94C>G
NM_007255.2:c.570C>G NP_009186.1:p.Leu190=
XM_005265805.2:c.228C>G XP_005265862.1:p.Leu76=
XM_006714816.2:c.90C>G XP_006714879.1:p.Leu30=
XM_011534421.1:c.228C>G XP_011532723.1:p.Leu76=
XM_006714816.4:c.90C>G XP_006714879.1:p.Leu30=
XM_017008999.2:c.228C>G XP_016864488.1:p.Leu76=
NM_007255.3:c.570C>G MANE Select NP_009186.1:p.Leu190=