Canonical Allele Identifier: CA6655529

Gene: B4GALNT1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57628130G>A , CM000674.2:g.57628130G>A	GRCh38
NC_000012.11:g.58021913G>A , CM000674.1:g.58021913G>A	GRCh37
NC_000012.10:g.56308180G>A	NCBI36
NG_033849.1:g.10110C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341156.9:c.1135C>T MANE Select	ENSP00000341562.4:p.Leu379=
ENST00000341156.8:c.1135C>T	ENSP00000341562.4:p.Leu379=
ENST00000418555.6:c.970C>T	ENSP00000401601.2:p.Leu324=
ENST00000547741.1:c.150C>T
ENST00000552468.1:n.1236C>T
ENST00000552798.5:c.*398C>T	ENSP00000447076.1:n.*398C>T
ENST00000553142.5:n.1516C>T
NM_001276468.1:c.970C>T	NP_001263397.1:p.Leu324=
NM_001478.4:c.1135C>T	NP_001469.1:p.Leu379=
XM_005268773.3:c.1135C>T	XP_005268830.1:p.Leu379=
XM_011538147.1:c.1153C>T	XP_011536449.1:p.Leu385=
XM_011538148.1:c.1153C>T	XP_011536450.1:p.Leu385=
XM_005268773.5:c.1135C>T	XP_005268830.1:p.Leu379=
XM_011538147.3:c.1153C>T	XP_011536449.1:p.Leu385=
XM_017019140.2:c.1270C>T	XP_016874629.1:p.Leu424=
XM_017019141.1:c.1270C>T	XP_016874630.1:p.Leu424=
XM_017019142.1:c.1135C>T	XP_016874631.1:p.Leu379=
XM_024448928.1:c.1153C>T	XP_024304696.1:p.Leu385=
XM_024448929.1:c.580C>T	XP_024304697.1:p.Leu194=
XR_002957307.1:n.1289C>T
NM_001478.5:c.1135C>T MANE Select	NP_001469.1:p.Leu379=
NM_001276468.2:c.970C>T	NP_001263397.1:p.Leu324=