Canonical Allele Identifier: CA1922577729
Gene: MAT1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.80274416_80274418delinsTGA , CM000672.2:g.80274416_80274418delinsTGA GRCh38
NC_000010.10:g.82034172_82034174delinsTGA , CM000672.1:g.82034172_82034174delinsTGA GRCh37
NC_000010.9:g.82024152_82024154delinsTGA NCBI36
NG_008083.1:g.20261_20263delinsTCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000372213.8:c.1085+102_1085+104delinsTCA MANE Select ENSP00000361287.3:n.1085+102_1085+104delinsTCA
ENST00000372213.7:c.1085+102_1085+104delinsTCA ENSP00000361287.3:n.1085+102_1085+104delinsTCA
ENST00000480845.1:n.317+102_317+104delinsTCA
ENST00000485270.5:n.597+102_597+104delinsTCA
NM_000429.2:c.1085+102_1085+104delinsTCA NP_000420.1:n.1085+102_1085+104delinsTCA
XM_005269842.3:c.1085+102_1085+104delinsTCA XP_005269899.1:n.1085+102_1085+104delinsTCA
XM_005269843.3:c.962+102_962+104delinsTCA XP_005269900.1:n.962+102_962+104delinsTCA
NM_000429.3:c.1085+102_1085+104delinsTCA MANE Select NP_000420.1:n.1085+102_1085+104delinsTCA