Canonical Allele Identifier: CA2589197387
Gene: ADAM12 HGNC NCBI

Linked Data

dbSNP Id: rs2133398269
gnomAD v3: 10-126036115-A-G
gnomAD v4: 10-126036115-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.126036115A>G , CM000672.2:g.126036115A>G GRCh38
NC_000010.10:g.127724684A>G , CM000672.1:g.127724684A>G GRCh37
NC_000010.9:g.127714674A>G NCBI36
NG_029050.1:g.357444T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000448723.2:c.2529+31T>C MANE Select ENSP00000391268.2:n.2529+31T>C
ENST00000368679.8:c.2538+31T>C ENSP00000357668.4:n.2538+31T>C
NM_001288973.1:c.2529+31T>C NP_001275902.1:n.2529+31T>C
NM_003474.5:c.2538+31T>C NP_003465.3:n.2538+31T>C
XM_017016705.1:c.2070+31T>C XP_016872194.1:n.2070+31T>C
XM_017016706.1:c.1371+31T>C XP_016872195.1:n.1371+31T>C
XM_024448210.1:c.1200+31T>C XP_024303978.1:n.1200+31T>C
NM_001288973.2:c.2529+31T>C MANE Select NP_001275902.1:n.2529+31T>C
NM_003474.6:c.2538+31T>C NP_003465.3:n.2538+31T>C
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