Canonical Allele Identifier: CA362377660
Community Standard Title: NM_007255.3(B4GALT7):c.938T>G (p.Met313Arg)
Gene: B4GALT7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.177609649T>G , CM000667.2:g.177609649T>G GRCh38
NC_000005.9:g.177036650T>G , CM000667.1:g.177036650T>G GRCh37
NC_000005.8:g.176969256T>G NCBI36
NG_015977.1:g.14532T>G

Transcript Alleles

HGVS Amino-acid Change
NM_007255.3:c.938T>G MANE Select NP_009186.1:p.Met313Arg
ENST00000029410.10:c.938T>G MANE Select ENSP00000029410.5:p.Met313Arg
NM_007255.2:c.938T>G NP_009186.1:p.Met313Arg
ENST00000029410.9:c.938T>G ENSP00000029410.5:p.Met313Arg
ENST00000505145.1:n.2036T>G
ENST00000505433.5:c.*444T>G ENSP00000425591.1:n.*444T>G
ENST00000515353.1:n.1760T>G
XM_005265805.2:c.596T>G XP_005265862.1:p.Met199Arg
XM_006714816.2:c.458T>G XP_006714879.1:p.Met153Arg
XM_006714816.4:c.458T>G XP_006714879.1:p.Met153Arg
XM_011534421.1:c.596T>G XP_011532723.1:p.Met199Arg
XM_017008999.2:c.596T>G XP_016864488.1:p.Met199Arg