Canonical Allele Identifier: CA362373192
Gene: B4GALT7 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.177604340C>T , CM000667.2:g.177604340C>T GRCh38
NC_000005.9:g.177031341C>T , CM000667.1:g.177031341C>T GRCh37
NC_000005.8:g.176963947C>T NCBI36
NG_015977.1:g.9223C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000029410.10:c.212C>T MANE Select ENSP00000029410.5:p.Pro71Leu
ENST00000029410.9:c.212C>T ENSP00000029410.5:p.Pro71Leu
ENST00000502420.1:n.191C>T
ENST00000505433.5:c.212C>T ENSP00000425591.1:p.Pro71Leu
ENST00000505468.1:c.-131C>T ENSP00000420886.1:n.-131C>T
ENST00000507061.1:c.29C>T ENSP00000423868.1:p.Pro10Leu
ENST00000510761.1:c.-131C>T ENSP00000423438.1:n.-131C>T
NM_007255.2:c.212C>T NP_009186.1:p.Pro71Leu
XM_005265805.2:c.-131C>T XP_005265862.1:n.-131C>T
XM_006714816.2:c.-288C>T XP_006714879.1:n.-288C>T
XM_011534421.1:c.-131C>T XP_011532723.1:n.-131C>T
XM_006714816.4:c.-288C>T XP_006714879.1:n.-288C>T
XM_017008999.2:c.-131C>T XP_016864488.1:n.-131C>T
NM_007255.3:c.212C>T MANE Select NP_009186.1:p.Pro71Leu