Canonical Allele Identifier: CA415761000
Gene: B3GALT6 HGNC NCBI

Linked Data

dbSNP Id: rs758257378
gnomAD v4: 1-1232650-G-C
MyVariant Identifiers: chr1:g.1168030G>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1232650G>C , CM000663.2:g.1232650G>C GRCh38
NC_000001.10:g.1168030G>C , CM000663.1:g.1168030G>C GRCh37
NC_000001.9:g.1157893G>C NCBI36
NG_030007.1:g.4418C>G
NG_033265.1:g.5402G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000379198.5:c.372G>C MANE Select ENSP00000368496.2:p.Ala124=
ENST00000379198.3:c.372G>C ENSP00000368496.2:p.Ala124=
NM_080605.3:c.372G>C NP_542172.2:p.Ala124=
NM_080605.4:c.372G>C MANE Select NP_542172.2:p.Ala124=
Search 100 bp 5'
Search 100 bp 3'