Canonical Allele Identifier: CA304392206
Gene: MATK HGNC NCBI

Linked Data

dbSNP Id: rs185425361
gnomAD v2: 19-3797080-C-G
gnomAD v3: 19-3797082-C-G
gnomAD v4: 19-3797082-C-G
MyVariant Identifiers: chr19:g.3797080C>G (hg19) chr19:g.3797082C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.3797082C>G , CM000681.2:g.3797082C>G GRCh38
NC_000019.9:g.3797080C>G , CM000681.1:g.3797080C>G GRCh37
NC_000019.8:g.3748080C>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000395045.6:c.-58+4450G>C ENSP00000378485.1:n.-58+4450G>C
ENST00000590821.1:n.271+4450G>C
ENST00000590849.1:c.-52+4450G>C ENSP00000467992.1:n.-52+4450G>C
ENST00000590980.1:c.-58+4450G>C ENSP00000467472.1:n.-58+4450G>C
ENST00000592300.1:n.273-3681G>C
ENST00000592612.1:n.251-3684G>C
NM_002378.3:c.-58+4450G>C NP_002369.2:n.-58+4450G>C
XM_011528019.1:c.-58+4450G>C XP_011526321.1:n.-58+4450G>C
NM_002378.4:c.-58+4450G>C NP_002369.2:n.-58+4450G>C
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