Canonical Allele Identifier: CA5576608

Gene: MAT1A

Linked Data

• dbSNP Id: rs770455268
• ExAC: 10:82033685 GCAGGGTTTCTTTCTC / G
• gnomAD v2: 10-82033685-GCAGGGTTTCTTTCTC-G
• gnomAD v3: 10-80273929-GCAGGGTTTCTTTCTC-G
• gnomAD v4: 10-80273929-GCAGGGTTTCTTTCTC-G
• MyVariant Identifiers: chr10:g.82033686_82033700del (hg19) ; chr10:g.80273930_80273944del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.80273932_80273946del , CM000672.2:g.80273932_80273946del	GRCh38
NC_000010.10:g.82033688_82033702del , CM000672.1:g.82033688_82033702del	GRCh37
NC_000010.9:g.82023668_82023682del	NCBI36
NG_008083.1:g.20735_20749del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372213.8:c.1086-61_1086-47del MANE Select	ENSP00000361287.3:n.1086-61_1086-47del
ENST00000372213.7:c.1086-61_1086-47del	ENSP00000361287.3:n.1086-61_1086-47del
ENST00000480845.1:n.318-61_318-47del
ENST00000485270.5:n.598-61_598-47del
NM_000429.2:c.1086-61_1086-47del	NP_000420.1:n.1086-61_1086-47del
XM_005269842.3:c.1086-61_1086-47del	XP_005269899.1:n.1086-61_1086-47del
XM_005269843.3:c.963-61_963-47del	XP_005269900.1:n.963-61_963-47del
NM_000429.3:c.1086-61_1086-47del MANE Select	NP_000420.1:n.1086-61_1086-47del