Canonical Allele Identifier: CA385496468

Gene: B4GALNT1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57628713C>A , CM000674.2:g.57628713C>A	GRCh38
NC_000012.11:g.58022496C>A , CM000674.1:g.58022496C>A	GRCh37
NC_000012.10:g.56308763C>A	NCBI36
NG_033849.1:g.9527G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001478.5:c.1002G>T MANE Select	NP_001469.1:p.Lys334Asn
ENST00000341156.9:c.1002G>T MANE Select	ENSP00000341562.4:p.Lys334Asn
NM_001276468.1:c.837G>T	NP_001263397.1:p.Lys279Asn
NM_001276468.2:c.837G>T	NP_001263397.1:p.Lys279Asn
NM_001478.4:c.1002G>T	NP_001469.1:p.Lys334Asn
ENST00000341156.8:c.1002G>T	ENSP00000341562.4:p.Lys334Asn
ENST00000418555.6:c.837G>T	ENSP00000401601.2:p.Lys279Asn
ENST00000449184.7:c.903G>T	ENSP00000473533.1:p.Lys301Asn
ENST00000547741.1:c.17G>T
ENST00000549391.5:c.648G>T
ENST00000552468.1:n.653G>T
ENST00000552798.5:c.*265G>T	ENSP00000447076.1:n.*265G>T
ENST00000553142.5:n.1383G>T
XM_005268773.3:c.1002G>T	XP_005268830.1:p.Lys334Asn
XM_005268773.5:c.1002G>T	XP_005268830.1:p.Lys334Asn
XM_011538147.1:c.1020G>T	XP_011536449.1:p.Lys340Asn
XM_011538147.3:c.1020G>T	XP_011536449.1:p.Lys340Asn
XM_011538148.1:c.1020G>T	XP_011536450.1:p.Lys340Asn
XM_017019140.2:c.1002G>T	XP_016874629.1:p.Lys334Asn
XM_017019141.1:c.1002G>T	XP_016874630.1:p.Lys334Asn
XM_017019142.1:c.1002G>T	XP_016874631.1:p.Lys334Asn
XM_024448928.1:c.1020G>T	XP_024304696.1:p.Lys340Asn
XM_024448929.1:c.312G>T	XP_024304697.1:p.Lys104Asn
XR_002957307.1:n.1021G>T