Canonical Allele Identifier: CA2722247102

Gene: MAT1A

Linked Data

• dbSNP Id: rs2132700666

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.80273963del , CM000672.2:g.80273963del	GRCh38
NC_000010.10:g.82033719del , CM000672.1:g.82033719del	GRCh37
NC_000010.9:g.82023699del	NCBI36
NG_008083.1:g.20718del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372213.8:c.1086-78del MANE Select	ENSP00000361287.3:n.1086-78del
ENST00000372213.7:c.1086-78del	ENSP00000361287.3:n.1086-78del
ENST00000480845.1:n.318-78del
ENST00000485270.5:n.598-78del
NM_000429.2:c.1086-78del	NP_000420.1:n.1086-78del
XM_005269842.3:c.1086-78del	XP_005269899.1:n.1086-78del
XM_005269843.3:c.963-78del	XP_005269900.1:n.963-78del
NM_000429.3:c.1086-78del MANE Select	NP_000420.1:n.1086-78del