Canonical Allele Identifier: CA212197

Gene: MARS1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.[57500406G>A;57512300C>T] , CM000674.2:g.[57500406G>A;57512300C>T]	GRCh38
NC_000012.11:g.[57894189G>A;57906083C>T] , CM000674.1:g.[57894189G>A;57906083C>T]	GRCh37
NC_000012.10:g.[56180456G>A;56192350C>T]	NCBI36
NG_034077.1:g.[17454G>A;29348C>T]

Transcript Alleles

HGVS	Amino-acid Change
NM_004990.4:c.[1177G>A;1700C>T] MANE Select	NP_004981.2:p.[Ala393Thr;Ser567Leu]
ENST00000262027.10:c.[1177G>A;1700C>T] MANE Select	ENSP00000262027.5:p.[Ala393Thr;Ser567Leu]
NM_004990.3:c.[1177G>A;1700C>T]	NP_004981.2:p.[Ala393Thr;Ser567Leu]
ENST00000262027.9:c.[1177G>A;1700C>T]	ENSP00000262027.5:p.[Ala393Thr;Ser567Leu]
ENST00000537638.6:c.[1177G>A;1636-3C>T]	ENSP00000446168.2:p.Ala393Thr
ENST00000545888.6:c.[*678G>A;*1201C>T]	ENSP00000439307.2:n.[*678G>A;*1201C>T]
ENST00000548944.1:c.[49G>A;134-4195C>T]	ENSP00000449071.1:p.Ala17Thr
ENST00000628866.2:c.[*678G>A;*1201C>T]	ENSP00000486738.1:n.[*678G>A;*1201C>T]
XM_006719398.2:c.[475G>A;998C>T]	XP_006719461.1:p.[Ala159Thr;Ser333Leu]
XM_006719398.4:c.[475G>A;998C>T]	XP_006719461.1:p.[Ala159Thr;Ser333Leu]
XM_011538353.1:c.[1177G>A;1636-3C>T]	XP_011536655.1:p.Ala393Thr
XR_001748704.2:n.[1200G>A;1659-3C>T]
XR_002957327.1:n.[1124G>A;1647C>T]