Canonical Allele Identifier: CA337824645
Gene: B3GALT6 HGNC NCBI

Linked Data

gnomAD v4: 1-1232622-G-C
MyVariant Identifiers: chr1:g.1168002G>C (hg19) chr1:g.1232622G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1232622G>C , CM000663.2:g.1232622G>C GRCh38
NC_000001.10:g.1168002G>C , CM000663.1:g.1168002G>C GRCh37
NC_000001.9:g.1157865G>C NCBI36
NG_030007.1:g.4446C>G
NG_033265.1:g.5374G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000379198.5:c.344G>C MANE Select ENSP00000368496.2:p.Arg115Pro
ENST00000379198.3:c.344G>C ENSP00000368496.2:p.Arg115Pro
NM_080605.3:c.344G>C NP_542172.2:p.Arg115Pro
NM_080605.4:c.344G>C MANE Select NP_542172.2:p.Arg115Pro
Search 100 bp 5'
Search 100 bp 3'