Canonical Allele Identifier: CA385496001

Gene: B4GALNT1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57628234A>G , CM000674.2:g.57628234A>G	GRCh38
NC_000012.11:g.58022017A>G , CM000674.1:g.58022017A>G	GRCh37
NC_000012.10:g.56308284A>G	NCBI36
NG_033849.1:g.10006T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341156.9:c.1031T>C MANE Select	ENSP00000341562.4:p.Val344Ala
ENST00000341156.8:c.1031T>C	ENSP00000341562.4:p.Val344Ala
ENST00000418555.6:c.866T>C	ENSP00000401601.2:p.Val289Ala
ENST00000547741.1:c.46T>C
ENST00000549391.5:c.812T>C
ENST00000552468.1:n.1132T>C
ENST00000552798.5:c.*294T>C	ENSP00000447076.1:n.*294T>C
ENST00000553142.5:n.1412T>C
NM_001276468.1:c.866T>C	NP_001263397.1:p.Val289Ala
NM_001478.4:c.1031T>C	NP_001469.1:p.Val344Ala
XM_005268773.3:c.1031T>C	XP_005268830.1:p.Val344Ala
XM_011538147.1:c.1049T>C	XP_011536449.1:p.Val350Ala
XM_011538148.1:c.1049T>C	XP_011536450.1:p.Val350Ala
XM_005268773.5:c.1031T>C	XP_005268830.1:p.Val344Ala
XM_011538147.3:c.1049T>C	XP_011536449.1:p.Val350Ala
XM_017019140.2:c.1166T>C	XP_016874629.1:p.Val389Ala
XM_017019141.1:c.1166T>C	XP_016874630.1:p.Val389Ala
XM_017019142.1:c.1031T>C	XP_016874631.1:p.Val344Ala
XM_024448928.1:c.1049T>C	XP_024304696.1:p.Val350Ala
XM_024448929.1:c.476T>C	XP_024304697.1:p.Val159Ala
XR_002957307.1:n.1185T>C
NM_001478.5:c.1031T>C MANE Select	NP_001469.1:p.Val344Ala
NM_001276468.2:c.866T>C	NP_001263397.1:p.Val289Ala