Canonical Allele Identifier: CA14736870
Gene: MATK HGNC NCBI

Linked Data

dbSNP Id: rs12104221
gnomAD v2: 19-3797100-C-T
gnomAD v3: 19-3797102-C-T
gnomAD v4: 19-3797102-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.3797102C>T , CM000681.2:g.3797102C>T GRCh38
NC_000019.9:g.3797100C>T , CM000681.1:g.3797100C>T GRCh37
NC_000019.8:g.3748100C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000395045.6:c.-58+4430G>A ENSP00000378485.1:n.-58+4430G>A
ENST00000590821.1:n.271+4430G>A
ENST00000590849.1:c.-52+4430G>A ENSP00000467992.1:n.-52+4430G>A
ENST00000590980.1:c.-58+4430G>A ENSP00000467472.1:n.-58+4430G>A
ENST00000592300.1:n.273-3701G>A
ENST00000592612.1:n.251-3704G>A
NM_002378.3:c.-58+4430G>A NP_002369.2:n.-58+4430G>A
XM_011528019.1:c.-58+4430G>A XP_011526321.1:n.-58+4430G>A
NM_002378.4:c.-58+4430G>A NP_002369.2:n.-58+4430G>A