Canonical Allele Identifier: CA337824786
Gene: B3GALT6 HGNC NCBI

Linked Data

gnomAD v4: 1-1232637-T-C
MyVariant Identifiers: chr1:g.1168017T>C (hg19) chr1:g.1232637T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1232637T>C , CM000663.2:g.1232637T>C GRCh38
NC_000001.10:g.1168017T>C , CM000663.1:g.1168017T>C GRCh37
NC_000001.9:g.1157880T>C NCBI36
NG_030007.1:g.4431A>G
NG_033265.1:g.5389T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000379198.5:c.359T>C MANE Select ENSP00000368496.2:p.Leu120Pro
ENST00000379198.3:c.359T>C ENSP00000368496.2:p.Leu120Pro
NM_080605.3:c.359T>C NP_542172.2:p.Leu120Pro
NM_080605.4:c.359T>C MANE Select NP_542172.2:p.Leu120Pro
Search 100 bp 5'
Search 100 bp 3'