Canonical Allele Identifier: CA485591351
Gene: MMP14 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.23312626T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.22843417T>C , CM000676.2:g.22843417T>C GRCh38
NC_000014.8:g.23312626T>C , CM000676.1:g.23312626T>C GRCh37
NC_000014.7:g.22382466T>C NCBI36
NG_046989.1:g.11885T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000311852.11:c.849T>C MANE Select ENSP00000308208.6:p.Tyr283=
ENST00000548162.2:c.849T>C ENSP00000506068.1:p.Tyr283=
ENST00000680097.1:c.*164T>C ENSP00000506631.1:n.*164T>C
ENST00000680941.1:c.*247T>C ENSP00000506378.1:n.*247T>C
ENST00000311852.10:c.849T>C ENSP00000308208.6:p.Tyr283=
ENST00000548162.1:n.1091T>C
NM_004995.3:c.849T>C NP_004986.1:p.Tyr283=
NM_004995.4:c.849T>C MANE Select NP_004986.1:p.Tyr283=