Canonical Allele Identifier: CA992788652
Gene: MATK HGNC NCBI

Linked Data

gnomAD v3: 19-3797214-A-T
gnomAD v4: 19-3797214-A-T
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.3797214A>T , CM000681.2:g.3797214A>T GRCh38
NC_000019.9:g.3797212A>T , CM000681.1:g.3797212A>T GRCh37
NC_000019.8:g.3748212A>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000395045.6:c.-58+4318T>A ENSP00000378485.1:n.-58+4318T>A
ENST00000590821.1:n.271+4318T>A
ENST00000590849.1:c.-52+4318T>A ENSP00000467992.1:n.-52+4318T>A
ENST00000590980.1:c.-58+4318T>A ENSP00000467472.1:n.-58+4318T>A
ENST00000592300.1:n.273-3813T>A
ENST00000592612.1:n.251-3816T>A
NM_002378.3:c.-58+4318T>A NP_002369.2:n.-58+4318T>A
XM_011528019.1:c.-58+4318T>A XP_011526321.1:n.-58+4318T>A
NM_002378.4:c.-58+4318T>A NP_002369.2:n.-58+4318T>A
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