Canonical Allele Identifier: CA304392409
Gene: MATK HGNC NCBI

Linked Data

dbSNP Id: rs937578490
gnomAD v2: 19-3797313-G-T
gnomAD v3: 19-3797315-G-T
gnomAD v4: 19-3797315-G-T
MyVariant Identifiers: chr19:g.3797313G>T (hg19) chr19:g.3797315G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.3797315G>T , CM000681.2:g.3797315G>T GRCh38
NC_000019.9:g.3797313G>T , CM000681.1:g.3797313G>T GRCh37
NC_000019.8:g.3748313G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000395045.6:c.-58+4217C>A ENSP00000378485.1:n.-58+4217C>A
ENST00000590821.1:n.271+4217C>A
ENST00000590849.1:c.-52+4217C>A ENSP00000467992.1:n.-52+4217C>A
ENST00000590980.1:c.-58+4217C>A ENSP00000467472.1:n.-58+4217C>A
ENST00000592300.1:n.273-3914C>A
ENST00000592612.1:n.251-3917C>A
NM_002378.3:c.-58+4217C>A NP_002369.2:n.-58+4217C>A
XM_011528019.1:c.-58+4217C>A XP_011526321.1:n.-58+4217C>A
NM_002378.4:c.-58+4217C>A NP_002369.2:n.-58+4217C>A
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