Canonical Allele Identifier: CA304392365
Gene: MATK HGNC NCBI

Linked Data

dbSNP Id: rs114629441
gnomAD v2: 19-3797236-A-C
gnomAD v3: 19-3797238-A-C
gnomAD v4: 19-3797238-A-C
MyVariant Identifiers: chr19:g.3797236A>C (hg19) chr19:g.3797238A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.3797238A>C , CM000681.2:g.3797238A>C GRCh38
NC_000019.9:g.3797236A>C , CM000681.1:g.3797236A>C GRCh37
NC_000019.8:g.3748236A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000395045.6:c.-58+4294T>G ENSP00000378485.1:n.-58+4294T>G
ENST00000590821.1:n.271+4294T>G
ENST00000590849.1:c.-52+4294T>G ENSP00000467992.1:n.-52+4294T>G
ENST00000590980.1:c.-58+4294T>G ENSP00000467472.1:n.-58+4294T>G
ENST00000592300.1:n.273-3837T>G
ENST00000592612.1:n.251-3840T>G
NM_002378.3:c.-58+4294T>G NP_002369.2:n.-58+4294T>G
XM_011528019.1:c.-58+4294T>G XP_011526321.1:n.-58+4294T>G
NM_002378.4:c.-58+4294T>G NP_002369.2:n.-58+4294T>G
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