Canonical Allele Identifier: CA337824945
Gene: B3GALT6 HGNC NCBI

Linked Data

gnomAD v4: 1-1232658-A-G
MyVariant Identifiers: chr1:g.1168038A>G (hg19) chr1:g.1232658A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1232658A>G , CM000663.2:g.1232658A>G GRCh38
NC_000001.10:g.1168038A>G , CM000663.1:g.1168038A>G GRCh37
NC_000001.9:g.1157901A>G NCBI36
NG_030007.1:g.4410T>C
NG_033265.1:g.5410A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000379198.5:c.380A>G MANE Select ENSP00000368496.2:p.Asp127Gly
ENST00000379198.3:c.380A>G ENSP00000368496.2:p.Asp127Gly
NM_080605.3:c.380A>G NP_542172.2:p.Asp127Gly
NM_080605.4:c.380A>G MANE Select NP_542172.2:p.Asp127Gly
Search 100 bp 5'
Search 100 bp 3'