Canonical Allele Identifier: CA415760770
Gene: B3GALT6 HGNC NCBI

Linked Data

gnomAD v4: 1-1232389-G-T
MyVariant Identifiers: chr1:g.1167769G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1232389G>T , CM000663.2:g.1232389G>T GRCh38
NC_000001.10:g.1167769G>T , CM000663.1:g.1167769G>T GRCh37
NC_000001.9:g.1157632G>T NCBI36
NG_030007.1:g.4679C>A
NG_033265.1:g.5141G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000379198.5:c.111G>T MANE Select ENSP00000368496.2:p.Gly37=
ENST00000379198.3:c.111G>T ENSP00000368496.2:p.Gly37=
NM_080605.3:c.111G>T NP_542172.2:p.Gly37=
NM_080605.4:c.111G>T MANE Select NP_542172.2:p.Gly37=