Canonical Allele Identifier: CA16612696

Gene: GALNT12

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)

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