Canonical Allele Identifier: CA6655772

Gene: B4GALNT1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57631030T>C , CM000674.2:g.57631030T>C	GRCh38
NC_000012.11:g.58024813T>C , CM000674.1:g.58024813T>C	GRCh37
NC_000012.10:g.56311080T>C	NCBI36
NG_033849.1:g.7210A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001478.5:c.440A>G MANE Select	NP_001469.1:p.Tyr147Cys
ENST00000341156.9:c.440A>G MANE Select	ENSP00000341562.4:p.Tyr147Cys
NM_001276468.1:c.275A>G	NP_001263397.1:p.Tyr92Cys
NM_001276468.2:c.275A>G	NP_001263397.1:p.Tyr92Cys
NM_001276469.1:c.440A>G	NP_001263398.1:p.Tyr147Cys
NM_001276469.2:c.440A>G	NP_001263398.1:p.Tyr147Cys
NM_001478.4:c.440A>G	NP_001469.1:p.Tyr147Cys
ENST00000341156.8:c.440A>G	ENSP00000341562.4:p.Tyr147Cys
ENST00000418555.6:c.275A>G	ENSP00000401601.2:p.Tyr92Cys
ENST00000449184.7:c.440A>G	ENSP00000473533.1:p.Tyr147Cys
ENST00000548487.5:c.*110A>G	ENSP00000449534.1:n.*110A>G
ENST00000548888.5:c.440A>G	ENSP00000447945.1:p.Tyr147Cys
ENST00000549391.5:c.58A>G
ENST00000550764.5:c.440A>G	ENSP00000450303.1:p.Tyr147Cys
ENST00000552219.5:c.*39A>G	ENSP00000448340.1:n.*39A>G
ENST00000552350.5:c.440A>G	ENSP00000448500.1:p.Tyr147Cys
ENST00000552798.5:c.440A>G	ENSP00000447076.1:p.Tyr147Cys
ENST00000553142.5:n.821A>G
XM_005268773.3:c.440A>G	XP_005268830.1:p.Tyr147Cys
XM_005268773.5:c.440A>G	XP_005268830.1:p.Tyr147Cys
XM_011538147.1:c.440A>G	XP_011536449.1:p.Tyr147Cys
XM_011538147.3:c.440A>G	XP_011536449.1:p.Tyr147Cys
XM_011538148.1:c.440A>G	XP_011536450.1:p.Tyr147Cys
XM_017019140.2:c.440A>G	XP_016874629.1:p.Tyr147Cys
XM_017019141.1:c.440A>G	XP_016874630.1:p.Tyr147Cys
XM_017019142.1:c.440A>G	XP_016874631.1:p.Tyr147Cys
XM_024448928.1:c.440A>G	XP_024304696.1:p.Tyr147Cys
XM_024448929.1:c.-1256A>G	XP_024304697.1:n.-1256A>G
XR_002957307.1:n.441A>G