Canonical Allele Identifier: CA3586533
Community Standard Title: NM_007255.3(B4GALT7):c.563C>G (p.Pro188Arg)
Gene: B4GALT7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.177607451C>G , CM000667.2:g.177607451C>G GRCh38
NC_000005.9:g.177034452C>G , CM000667.1:g.177034452C>G GRCh37
NC_000005.8:g.176967058C>G NCBI36
NG_015977.1:g.12334C>G

Transcript Alleles

HGVS Amino-acid Change
NM_007255.3:c.563C>G MANE Select NP_009186.1:p.Pro188Arg
ENST00000029410.10:c.563C>G MANE Select ENSP00000029410.5:p.Pro188Arg
NM_007255.2:c.563C>G NP_009186.1:p.Pro188Arg
ENST00000029410.9:c.563C>G ENSP00000029410.5:p.Pro188Arg
ENST00000502420.1:n.542C>G
ENST00000505145.1:n.1661C>G
ENST00000505433.5:c.*69C>G ENSP00000425591.1:n.*69C>G
ENST00000515353.1:n.87C>G
XM_005265805.2:c.221C>G XP_005265862.1:p.Pro74Arg
XM_006714816.2:c.83C>G XP_006714879.1:p.Pro28Arg
XM_006714816.4:c.83C>G XP_006714879.1:p.Pro28Arg
XM_011534421.1:c.221C>G XP_011532723.1:p.Pro74Arg
XM_017008999.2:c.221C>G XP_016864488.1:p.Pro74Arg