Canonical Allele Identifier: CA513445
Gene: B3GALT6 HGNC NCBI

Linked Data

ClinVar Variation Id: 453100
ClinVar RCV Id: RCV000522158 RCV001858048 RCV002470900 RCV003258852
dbSNP Id: rs759357299
ExAC: 1:1168476 A / G
gnomAD v2: 1-1168476-A-G
gnomAD v3: 1-1233096-A-G
gnomAD v4: 1-1233096-A-G
MyVariant Identifiers: chr1:g.1168476A>G (hg19) chr1:g.1233096A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1233096A>G , CM000663.2:g.1233096A>G GRCh38
NC_000001.10:g.1168476A>G , CM000663.1:g.1168476A>G GRCh37
NC_000001.9:g.1158339A>G NCBI36
NG_030007.1:g.3972T>C
NG_033265.1:g.5848A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000379198.5:c.818A>G MANE Select ENSP00000368496.2:p.Asn273Ser
ENST00000379198.3:c.818A>G ENSP00000368496.2:p.Asn273Ser
NM_080605.3:c.818A>G NP_542172.2:p.Asn273Ser
NM_080605.4:c.818A>G MANE Select NP_542172.2:p.Asn273Ser
Search 100 bp 5'
Search 100 bp 3'