Canonical Allele Identifier: CA304392191

Gene: MATK

Linked Data

• dbSNP Id: rs886078288
• gnomAD v3: 19-3797027-A-C
• gnomAD v4: 19-3797027-A-C
• MyVariant Identifiers: chr19:g.3797025A>C (hg19) ; chr19:g.3797027A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.3797027A>C , CM000681.2:g.3797027A>C	GRCh38
NC_000019.9:g.3797025A>C , CM000681.1:g.3797025A>C	GRCh37
NC_000019.8:g.3748025A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000395045.6:c.-58+4505T>G	ENSP00000378485.1:n.-58+4505T>G
ENST00000590821.1:n.271+4505T>G
ENST00000590849.1:c.-52+4505T>G	ENSP00000467992.1:n.-52+4505T>G
ENST00000590980.1:c.-58+4505T>G	ENSP00000467472.1:n.-58+4505T>G
ENST00000592300.1:n.273-3626T>G
ENST00000592612.1:n.251-3629T>G
NM_002378.3:c.-58+4505T>G	NP_002369.2:n.-58+4505T>G
XM_011528019.1:c.-58+4505T>G	XP_011526321.1:n.-58+4505T>G
NM_002378.4:c.-58+4505T>G	NP_002369.2:n.-58+4505T>G