Canonical Allele Identifier: CA16612696
Gene: GALNT12 HGNC NCBI

Linked Data

ClinVar Variation Id: 410594
ClinVar RCV Id: RCV000457022 RCV003463949 RCV004022804
dbSNP Id: rs889395877
gnomAD v2: 9-101570005-C-G
gnomAD v3: 9-98807723-C-G
gnomAD v4: 9-98807723-C-G
MyVariant Identifiers: chr9:g.101570005C>G (hg19) chr9:g.98807723C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.98807723C>G , CM000671.2:g.98807723C>G GRCh38
NC_000009.11:g.101570005C>G , CM000671.1:g.101570005C>G GRCh37
NC_000009.10:g.100609826C>G NCBI36
NG_028218.1:g.5025C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000375011.4:c.25C>G MANE Select ENSP00000364150.3:p.Arg9Gly
ENST00000375011.3:c.25C>G ENSP00000364150.3:p.Arg9Gly
NM_024642.4:c.25C>G NP_078918.3:p.Arg9Gly
NM_024642.5:c.25C>G MANE Select NP_078918.3:p.Arg9Gly
Search 100 bp 5'
Search 100 bp 3'