Canonical Allele Identifier: CA5740178

Gene: ADAM12

Linked Data

• dbSNP Id: rs1044122
• ExAC: 10:127724778 A / G
• gnomAD v2: 10-127724778-A-G
• gnomAD v3: 10-126036209-A-G
• gnomAD v4: 10-126036209-A-G
• MyVariant Identifiers: chr10:g.127724778A>G (hg19) ; chr10:g.126036209A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.126036209A>G , CM000672.2:g.126036209A>G	GRCh38
NC_000010.10:g.127724778A>G , CM000672.1:g.127724778A>G	GRCh37
NC_000010.9:g.127714768A>G	NCBI36
NG_029050.1:g.357350T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000448723.2:c.2466T>C MANE Select	ENSP00000391268.2:p.Ala822=
ENST00000368679.8:c.2475T>C	ENSP00000357668.4:p.Ala825=
NM_001288973.1:c.2466T>C	NP_001275902.1:p.Ala822=
NM_003474.5:c.2475T>C	NP_003465.3:p.Ala825=
XM_017016705.1:c.2007T>C	XP_016872194.1:p.Ala669=
XM_017016706.1:c.1308T>C	XP_016872195.1:p.Ala436=
XM_024448210.1:c.1137T>C	XP_024303978.1:p.Ala379=
NM_001288973.2:c.2466T>C MANE Select	NP_001275902.1:p.Ala822=
NM_003474.6:c.2475T>C	NP_003465.3:p.Ala825=