Canonical Allele Identifier: CA881962548

Gene: MATK

Linked Data

• dbSNP Id: rs1487196112
• gnomAD v3: 19-3797119-A-G
• gnomAD v4: 19-3797119-A-G
• MyVariant Identifiers: chr19:g.3797117A>G (hg19) ; chr19:g.3797119A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.3797119A>G , CM000681.2:g.3797119A>G	GRCh38
NC_000019.9:g.3797117A>G , CM000681.1:g.3797117A>G	GRCh37
NC_000019.8:g.3748117A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000395045.6:c.-58+4413T>C	ENSP00000378485.1:n.-58+4413T>C
ENST00000590821.1:n.271+4413T>C
ENST00000590849.1:c.-52+4413T>C	ENSP00000467992.1:n.-52+4413T>C
ENST00000590980.1:c.-58+4413T>C	ENSP00000467472.1:n.-58+4413T>C
ENST00000592300.1:n.273-3718T>C
ENST00000592612.1:n.251-3721T>C
NM_002378.3:c.-58+4413T>C	NP_002369.2:n.-58+4413T>C
XM_011528019.1:c.-58+4413T>C	XP_011526321.1:n.-58+4413T>C
NM_002378.4:c.-58+4413T>C	NP_002369.2:n.-58+4413T>C