Canonical Allele Identifier: CA16755168
Gene: B3GALT6 HGNC NCBI

Linked Data

ClinVar Variation Id: 1204929
ClinVar RCV Id: RCV001882678 RCV001571427
dbSNP Id: rs924068844
gnomAD v3: 1-1232551-G-C
gnomAD v4: 1-1232551-G-C
MyVariant Identifiers: chr1:g.1167931G>C (hg19) chr1:g.1232551G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1232551G>C , CM000663.2:g.1232551G>C GRCh38
NC_000001.10:g.1167931G>C , CM000663.1:g.1167931G>C GRCh37
NC_000001.9:g.1157794G>C NCBI36
NG_030007.1:g.4517C>G
NG_033265.1:g.5303G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000379198.5:c.273G>C MANE Select ENSP00000368496.2:p.Trp91Cys
ENST00000379198.3:c.273G>C ENSP00000368496.2:p.Trp91Cys
NM_080605.3:c.273G>C NP_542172.2:p.Trp91Cys
NM_080605.4:c.273G>C MANE Select NP_542172.2:p.Trp91Cys
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