Canonical Allele Identifier: CA304392281

Gene: MATK

Linked Data

• dbSNP Id: rs944995099
• gnomAD v2: 19-3797158-G-A
• gnomAD v3: 19-3797160-G-A
• gnomAD v4: 19-3797160-G-A
• MyVariant Identifiers: chr19:g.3797158G>A (hg19) ; chr19:g.3797160G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.3797160G>A , CM000681.2:g.3797160G>A	GRCh38
NC_000019.9:g.3797158G>A , CM000681.1:g.3797158G>A	GRCh37
NC_000019.8:g.3748158G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000395045.6:c.-58+4372C>T	ENSP00000378485.1:n.-58+4372C>T
ENST00000590821.1:n.271+4372C>T
ENST00000590849.1:c.-52+4372C>T	ENSP00000467992.1:n.-52+4372C>T
ENST00000590980.1:c.-58+4372C>T	ENSP00000467472.1:n.-58+4372C>T
ENST00000592300.1:n.273-3759C>T
ENST00000592612.1:n.251-3762C>T
NM_002378.3:c.-58+4372C>T	NP_002369.2:n.-58+4372C>T
XM_011528019.1:c.-58+4372C>T	XP_011526321.1:n.-58+4372C>T
NM_002378.4:c.-58+4372C>T	NP_002369.2:n.-58+4372C>T