Canonical Allele Identifier: CA447984348

Gene: B4GALT7

Linked Data

• gnomAD v4: 5-177604500-C-T
• MyVariant Identifiers: chr5:g.177031501C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177604500C>T , CM000667.2:g.177604500C>T	GRCh38
NC_000005.9:g.177031501C>T , CM000667.1:g.177031501C>T	GRCh37
NC_000005.8:g.176964107C>T	NCBI36
NG_015977.1:g.9383C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000029410.10:c.372C>T MANE Select	ENSP00000029410.5:p.Ile124=
ENST00000029410.9:c.372C>T	ENSP00000029410.5:p.Ile124=
ENST00000502420.1:n.351C>T
ENST00000505433.5:c.372C>T	ENSP00000425591.1:p.Ile124=
ENST00000505468.1:c.30C>T	ENSP00000420886.1:p.Ile10=
ENST00000507061.1:c.189C>T	ENSP00000423868.1:p.Ile63=
ENST00000510761.1:c.30C>T	ENSP00000423438.1:p.Ile10=
NM_007255.2:c.372C>T	NP_009186.1:p.Ile124=
XM_005265805.2:c.30C>T	XP_005265862.1:p.Ile10=
XM_006714816.2:c.-128C>T	XP_006714879.1:n.-128C>T
XM_011534421.1:c.30C>T	XP_011532723.1:p.Ile10=
XM_006714816.4:c.-128C>T	XP_006714879.1:n.-128C>T
XM_017008999.2:c.30C>T	XP_016864488.1:p.Ile10=
NM_007255.3:c.372C>T MANE Select	NP_009186.1:p.Ile124=