Canonical Allele Identifier: CA2609912761

Gene: MAT1A

Linked Data

• gnomAD v4: 10-80273933-G-GAAACCCTGCTCCT

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.80273933_80273934insAAACCCTGCTCCT , CM000672.2:g.80273933_80273934insAAACCCTGCTCCT	GRCh38
NC_000010.10:g.82033689_82033690insAAACCCTGCTCCT , CM000672.1:g.82033689_82033690insAAACCCTGCTCCT	GRCh37
NC_000010.9:g.82023669_82023670insAAACCCTGCTCCT	NCBI36
NG_008083.1:g.20745_20746insAGGAGCAGGGTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372213.8:c.1086-51_1086-50insAGGAGCAGGGTTT MANE Select	ENSP00000361287.3:n.1086-51_1086-50insAGGAGCAGGGTTT
ENST00000372213.7:c.1086-51_1086-50insAGGAGCAGGGTTT	ENSP00000361287.3:n.1086-51_1086-50insAGGAGCAGGGTTT
ENST00000480845.1:n.318-51_318-50insAGGAGCAGGGTTT
ENST00000485270.5:n.598-51_598-50insAGGAGCAGGGTTT
NM_000429.2:c.1086-51_1086-50insAGGAGCAGGGTTT	NP_000420.1:n.1086-51_1086-50insAGGAGCAGGGTTT
XM_005269842.3:c.1086-51_1086-50insAGGAGCAGGGTTT	XP_005269899.1:n.1086-51_1086-50insAGGAGCAGGGTTT
XM_005269843.3:c.963-51_963-50insAGGAGCAGGGTTT	XP_005269900.1:n.963-51_963-50insAGGAGCAGGGTTT
NM_000429.3:c.1086-51_1086-50insAGGAGCAGGGTTT MANE Select	NP_000420.1:n.1086-51_1086-50insAGGAGCAGGGTTT