Canonical Allele Identifier: CA513450

Gene: B3GALT6

Linked Data

• ClinVar Variation Id: 283597
• ClinVar RCV Id: RCV000360273 ; RCV003165730 ; RCV001332792 ; RCV001503677
• dbSNP Id: rs201547600
• ExAC: 1:1168511 G / A
• gnomAD v2: 1-1168511-G-A
• gnomAD v3: 1-1233131-G-A
• gnomAD v4: 1-1233131-G-A
• MyVariant Identifiers: chr1:g.1168511G>A (hg19) ; chr1:g.1233131G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1233131G>A , CM000663.2:g.1233131G>A	GRCh38
NC_000001.10:g.1168511G>A , CM000663.1:g.1168511G>A	GRCh37
NC_000001.9:g.1158374G>A	NCBI36
NG_030007.1:g.3937C>T
NG_033265.1:g.5883G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379198.5:c.853G>A MANE Select	ENSP00000368496.2:p.Asp285Asn
ENST00000379198.3:c.853G>A	ENSP00000368496.2:p.Asp285Asn
NM_080605.3:c.853G>A	NP_542172.2:p.Asp285Asn
NM_080605.4:c.853G>A MANE Select	NP_542172.2:p.Asp285Asn