Canonical Allele Identifier: CA362376574

Gene: B4GALT7

Linked Data

• MyVariant Identifiers: chr5:g.177035623G>C (hg19) ; chr5:g.177608622G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177608622G>C , CM000667.2:g.177608622G>C	GRCh38
NC_000005.9:g.177035623G>C , CM000667.1:g.177035623G>C	GRCh37
NC_000005.8:g.176968229G>C	NCBI36
NG_015977.1:g.13505G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000029410.10:c.723G>C MANE Select	ENSP00000029410.5:p.Gln241His
ENST00000029410.9:c.723G>C	ENSP00000029410.5:p.Gln241His
ENST00000505145.1:n.1821G>C
ENST00000505433.5:c.*229G>C	ENSP00000425591.1:n.*229G>C
ENST00000515353.1:n.1258G>C
NM_007255.2:c.723G>C	NP_009186.1:p.Gln241His
XM_005265805.2:c.381G>C	XP_005265862.1:p.Gln127His
XM_006714816.2:c.243G>C	XP_006714879.1:p.Gln81His
XM_011534421.1:c.381G>C	XP_011532723.1:p.Gln127His
XM_006714816.4:c.243G>C	XP_006714879.1:p.Gln81His
XM_017008999.2:c.381G>C	XP_016864488.1:p.Gln127His
NM_007255.3:c.723G>C MANE Select	NP_009186.1:p.Gln241His