Canonical Allele Identifier: CA388930877
Gene: MMP14 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.23312490T>C (hg19) chr14:g.22843281T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.22843281T>C , CM000676.2:g.22843281T>C GRCh38
NC_000014.8:g.23312490T>C , CM000676.1:g.23312490T>C GRCh37
NC_000014.7:g.22382330T>C NCBI36
NG_046989.1:g.11749T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000311852.11:c.713T>C MANE Select ENSP00000308208.6:p.Val238Ala
ENST00000548162.2:c.713T>C ENSP00000506068.1:p.Val238Ala
ENST00000680097.1:c.*28T>C ENSP00000506631.1:n.*28T>C
ENST00000680941.1:c.*111T>C ENSP00000506378.1:n.*111T>C
ENST00000311852.10:c.713T>C ENSP00000308208.6:p.Val238Ala
ENST00000548162.1:n.955T>C
NM_004995.3:c.713T>C NP_004986.1:p.Val238Ala
NM_004995.4:c.713T>C MANE Select NP_004986.1:p.Val238Ala
Search 100 bp 5'
Search 100 bp 3'