Canonical Allele Identifier: CA6251457

Gene: MMP12

Linked Data

• dbSNP Id: rs201644295
• ExAC: 11:102738085 T / C
• gnomAD v2: 11-102738085-T-C
• gnomAD v3: 11-102867354-T-C
• gnomAD v4: 11-102867354-T-C
• MyVariant Identifiers: chr11:g.102738085T>C (hg19) ; chr11:g.102867354T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.102867354T>C , CM000673.2:g.102867354T>C	GRCh38
NC_000011.9:g.102738085T>C , CM000673.1:g.102738085T>C	GRCh37
NC_000011.8:g.102243295T>C	NCBI36
NG_032936.1:g.12681A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000571244.3:c.827A>G MANE Select	ENSP00000458585.1:p.Asn276Ser
ENST00000571244.2:c.827A>G	ENSP00000458585.1:p.Asn276Ser
NM_002426.4:c.827A>G	NP_002417.2:p.Asn276Ser
NM_002426.5:c.827A>G	NP_002417.2:p.Asn276Ser
NM_002426.6:c.827A>G MANE Select	NP_002417.2:p.Asn276Ser