Canonical Allele Identifier: CA378686401

Gene: ADAM12

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.126064909G>T , CM000672.2:g.126064909G>T	GRCh38
NC_000010.10:g.127753478G>T , CM000672.1:g.127753478G>T	GRCh37
NC_000010.9:g.127743468G>T	NCBI36
NG_029050.1:g.328650C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000448723.2:c.1506C>A MANE Select	ENSP00000391268.2:p.Asn502Lys
ENST00000368676.8:c.1515C>A	ENSP00000357665.4:p.Asn505Lys
ENST00000368679.8:c.1515C>A	ENSP00000357668.4:p.Asn505Lys
ENST00000467145.1:n.430C>A
ENST00000482291.1:n.383C>A
NM_001288973.1:c.1506C>A	NP_001275902.1:p.Asn502Lys
NM_001288974.1:c.1506C>A	NP_001275903.1:p.Asn502Lys
NM_001288975.1:c.1506C>A	NP_001275904.1:p.Asn502Lys
NM_003474.5:c.1515C>A	NP_003465.3:p.Asn505Lys
NM_021641.4:c.1515C>A	NP_067673.2:p.Asn505Lys
XM_017016705.1:c.1047C>A	XP_016872194.1:p.Asn349Lys
XM_017016706.1:c.348C>A	XP_016872195.1:p.Asn116Lys
XM_024448210.1:c.177C>A	XP_024303978.1:p.Asn59Lys
NM_001288973.2:c.1506C>A MANE Select	NP_001275902.1:p.Asn502Lys
NM_001288974.2:c.1506C>A	NP_001275903.1:p.Asn502Lys
NM_001288975.2:c.1506C>A	NP_001275904.1:p.Asn502Lys
NM_003474.6:c.1515C>A	NP_003465.3:p.Asn505Lys
NM_021641.5:c.1515C>A	NP_067673.2:p.Asn505Lys