Canonical Allele Identifier: CA7105243
Gene: MMP14 HGNC NCBI

Linked Data

dbSNP Id: rs757197165
ExAC: 14:23312536 C / T
gnomAD v2: 14-23312536-C-T
gnomAD v4: 14-22843327-C-T
MyVariant Identifiers: chr14:g.23312536C>T (hg19) chr14:g.22843327C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.22843327C>T , CM000676.2:g.22843327C>T GRCh38
NC_000014.8:g.23312536C>T , CM000676.1:g.23312536C>T GRCh37
NC_000014.7:g.22382376C>T NCBI36
NG_046989.1:g.11795C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000311852.11:c.759C>T MANE Select ENSP00000308208.6:p.Pro253=
ENST00000548162.2:c.759C>T ENSP00000506068.1:p.Pro253=
ENST00000680097.1:c.*74C>T ENSP00000506631.1:n.*74C>T
ENST00000680941.1:c.*157C>T ENSP00000506378.1:n.*157C>T
ENST00000311852.10:c.759C>T ENSP00000308208.6:p.Pro253=
ENST00000548162.1:n.1001C>T
NM_004995.3:c.759C>T NP_004986.1:p.Pro253=
NM_004995.4:c.759C>T MANE Select NP_004986.1:p.Pro253=
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