Canonical Allele Identifier: CA2578500165

Gene: B4GALT7

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177609050G>C , CM000667.2:g.177609050G>C	GRCh38
NC_000005.9:g.177036051G>C , CM000667.1:g.177036051G>C	GRCh37
NC_000005.8:g.176968657G>C	NCBI36
NG_015977.1:g.13933G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000029410.10:c.828+36G>C MANE Select	ENSP00000029410.5:n.828+36G>C
ENST00000029410.9:c.828+36G>C	ENSP00000029410.5:n.828+36G>C
ENST00000505145.1:n.1926+36G>C
ENST00000505433.5:c.*334+36G>C	ENSP00000425591.1:n.*334+36G>C
ENST00000515353.1:n.1650+36G>C
NM_007255.2:c.828+36G>C	NP_009186.1:n.828+36G>C
XM_005265805.2:c.486+36G>C	XP_005265862.1:n.486+36G>C
XM_006714816.2:c.348+36G>C	XP_006714879.1:n.348+36G>C
XM_011534421.1:c.486+36G>C	XP_011532723.1:n.486+36G>C
XM_006714816.4:c.348+36G>C	XP_006714879.1:n.348+36G>C
XM_017008999.2:c.486+36G>C	XP_016864488.1:n.486+36G>C
NM_007255.3:c.828+36G>C MANE Select	NP_009186.1:n.828+36G>C