Canonical Allele Identifier: CA15674303

Gene: ADAM12

Linked Data

• dbSNP Id: rs1871054
• gnomAD v2: 10-127782409-C-T
• gnomAD v3: 10-126093840-C-T
• gnomAD v4: 10-126093840-C-T
• MyVariant Identifiers: chr10:g.127782409C>T (hg19) ; chr10:g.126093840C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.126093840C>T , CM000672.2:g.126093840C>T	GRCh38
NC_000010.10:g.127782409C>T , CM000672.1:g.127782409C>T	GRCh37
NC_000010.9:g.127772399C>T	NCBI36
NG_029050.1:g.299719G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000448723.2:c.1145+145G>A MANE Select	ENSP00000391268.2:n.1145+145G>A
ENST00000368676.8:c.1154+145G>A	ENSP00000357665.4:n.1154+145G>A
ENST00000368679.8:c.1154+145G>A	ENSP00000357668.4:n.1154+145G>A
ENST00000485388.2:n.124-2847G>A
NM_001288973.1:c.1145+145G>A	NP_001275902.1:n.1145+145G>A
NM_001288974.1:c.1145+145G>A	NP_001275903.1:n.1145+145G>A
NM_001288975.1:c.1145+145G>A	NP_001275904.1:n.1145+145G>A
NM_003474.5:c.1154+145G>A	NP_003465.3:n.1154+145G>A
NM_021641.4:c.1154+145G>A	NP_067673.2:n.1154+145G>A
XM_017016705.1:c.686+145G>A	XP_016872194.1:n.686+145G>A
NM_001288973.2:c.1145+145G>A MANE Select	NP_001275902.1:n.1145+145G>A
NM_001288974.2:c.1145+145G>A	NP_001275903.1:n.1145+145G>A
NM_001288975.2:c.1145+145G>A	NP_001275904.1:n.1145+145G>A
NM_003474.6:c.1154+145G>A	NP_003465.3:n.1154+145G>A
NM_021641.5:c.1154+145G>A	NP_067673.2:n.1154+145G>A