Canonical Allele Identifier: CA992788667
Gene: MATK HGNC NCBI

Linked Data

gnomAD v3: 19-3797229-T-G
gnomAD v4: 19-3797229-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.3797229T>G , CM000681.2:g.3797229T>G GRCh38
NC_000019.9:g.3797227T>G , CM000681.1:g.3797227T>G GRCh37
NC_000019.8:g.3748227T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000395045.6:c.-58+4303A>C ENSP00000378485.1:n.-58+4303A>C
ENST00000590821.1:n.271+4303A>C
ENST00000590849.1:c.-52+4303A>C ENSP00000467992.1:n.-52+4303A>C
ENST00000590980.1:c.-58+4303A>C ENSP00000467472.1:n.-58+4303A>C
ENST00000592300.1:n.273-3828A>C
ENST00000592612.1:n.251-3831A>C
NM_002378.3:c.-58+4303A>C NP_002369.2:n.-58+4303A>C
XM_011528019.1:c.-58+4303A>C XP_011526321.1:n.-58+4303A>C
NM_002378.4:c.-58+4303A>C NP_002369.2:n.-58+4303A>C
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