Canonical Allele Identifier: CA337825391
Gene: B3GALT6 HGNC NCBI

Linked Data

gnomAD v4: 1-1232708-G-A
MyVariant Identifiers: chr1:g.1168088G>A (hg19) chr1:g.1232708G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1232708G>A , CM000663.2:g.1232708G>A GRCh38
NC_000001.10:g.1168088G>A , CM000663.1:g.1168088G>A GRCh37
NC_000001.9:g.1157951G>A NCBI36
NG_030007.1:g.4360C>T
NG_033265.1:g.5460G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000379198.5:c.430G>A MANE Select ENSP00000368496.2:p.Asp144Asn
ENST00000379198.3:c.430G>A ENSP00000368496.2:p.Asp144Asn
NM_080605.3:c.430G>A NP_542172.2:p.Asp144Asn
NM_080605.4:c.430G>A MANE Select NP_542172.2:p.Asp144Asn
Search 100 bp 5'
Search 100 bp 3'