Canonical Allele Identifier: CA2574454978

Gene: MAT1A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.80273913G>C , CM000672.2:g.80273913G>C	GRCh38
NC_000010.10:g.82033669G>C , CM000672.1:g.82033669G>C	GRCh37
NC_000010.9:g.82023649G>C	NCBI36
NG_008083.1:g.20766C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372213.8:c.1086-30C>G MANE Select	ENSP00000361287.3:n.1086-30C>G
ENST00000372213.7:c.1086-30C>G	ENSP00000361287.3:n.1086-30C>G
ENST00000480845.1:n.318-30C>G
ENST00000485270.5:n.598-30C>G
NM_000429.2:c.1086-30C>G	NP_000420.1:n.1086-30C>G
XM_005269842.3:c.1086-30C>G	XP_005269899.1:n.1086-30C>G
XM_005269843.3:c.963-30C>G	XP_005269900.1:n.963-30C>G
NM_000429.3:c.1086-30C>G MANE Select	NP_000420.1:n.1086-30C>G