Canonical Allele Identifier: CA6655744

Gene: B4GALNT1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57630497G>A , CM000674.2:g.57630497G>A	GRCh38
NC_000012.11:g.58024280G>A , CM000674.1:g.58024280G>A	GRCh37
NC_000012.10:g.56310547G>A	NCBI36
NG_033849.1:g.7743C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001478.5:c.512C>T MANE Select	NP_001469.1:p.Ser171Phe
ENST00000341156.9:c.512C>T MANE Select	ENSP00000341562.4:p.Ser171Phe
NM_001276468.1:c.347C>T	NP_001263397.1:p.Ser116Phe
NM_001276468.2:c.347C>T	NP_001263397.1:p.Ser116Phe
NM_001276469.1:c.512C>T	NP_001263398.1:p.Ser171Phe
NM_001276469.2:c.512C>T	NP_001263398.1:p.Ser171Phe
NM_001478.4:c.512C>T	NP_001469.1:p.Ser171Phe
ENST00000341156.8:c.512C>T	ENSP00000341562.4:p.Ser171Phe
ENST00000418555.6:c.347C>T	ENSP00000401601.2:p.Ser116Phe
ENST00000449184.7:c.512C>T	ENSP00000473533.1:p.Ser171Phe
ENST00000548888.5:c.512C>T	ENSP00000447945.1:p.Ser171Phe
ENST00000549391.5:c.130C>T
ENST00000550764.5:c.512C>T	ENSP00000450303.1:p.Ser171Phe
ENST00000552350.5:c.512C>T	ENSP00000448500.1:p.Ser171Phe
ENST00000552798.5:c.491-165C>T	ENSP00000447076.1:n.491-165C>T
ENST00000553142.5:n.893C>T
XM_005268773.3:c.512C>T	XP_005268830.1:p.Ser171Phe
XM_005268773.5:c.512C>T	XP_005268830.1:p.Ser171Phe
XM_011538147.1:c.512C>T	XP_011536449.1:p.Ser171Phe
XM_011538147.3:c.512C>T	XP_011536449.1:p.Ser171Phe
XM_011538148.1:c.512C>T	XP_011536450.1:p.Ser171Phe
XM_017019140.2:c.512C>T	XP_016874629.1:p.Ser171Phe
XM_017019141.1:c.512C>T	XP_016874630.1:p.Ser171Phe
XM_017019142.1:c.512C>T	XP_016874631.1:p.Ser171Phe
XM_024448928.1:c.512C>T	XP_024304696.1:p.Ser171Phe
XM_024448929.1:c.-1184C>T	XP_024304697.1:n.-1184C>T
XR_002957307.1:n.513C>T