Canonical Allele Identifier: CA549158108

Gene: MAEA

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1297325G>C , CM000666.2:g.1297325G>C	GRCh38
NC_000004.11:g.1291113G>C , CM000666.1:g.1291113G>C	GRCh37
NC_000004.10:g.1281113G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303400.9:c.69+7343G>C MANE Select	ENSP00000302830.4:n.69+7343G>C
ENST00000264750.10:c.69+7343G>C	ENSP00000264750.6:n.69+7343G>C
ENST00000303400.8:c.69+7343G>C	ENSP00000302830.4:n.69+7343G>C
ENST00000502558.5:c.69+7343G>C	ENSP00000426903.1:n.69+7343G>C
ENST00000503653.5:c.69+7343G>C	ENSP00000421644.1:n.69+7343G>C
ENST00000503693.1:n.75+7343G>C
ENST00000505177.6:c.69+7343G>C	ENSP00000422215.2:n.69+7343G>C
ENST00000508634.1:n.86+7343G>C
ENST00000509254.5:c.69+7343G>C	ENSP00000426326.1:n.69+7343G>C
ENST00000509531.5:c.69+7343G>C	ENSP00000426966.1:n.69+7343G>C
ENST00000512308.5:c.70-631G>C	ENSP00000422235.1:n.70-631G>C
ENST00000513301.5:c.69+7343G>C	ENSP00000423056.1:n.69+7343G>C
ENST00000514708.5:c.69+7343G>C	ENSP00000427512.1:n.69+7343G>C
NM_001017405.2:c.69+7343G>C	NP_001017405.1:n.69+7343G>C
NM_001297430.1:c.69+7343G>C	NP_001284359.1:n.69+7343G>C
NM_001297431.1:c.69+7343G>C	NP_001284360.1:n.69+7343G>C
NM_005882.4:c.69+7343G>C	NP_005873.2:n.69+7343G>C
NR_123716.1:n.132+7343G>C
XM_005272247.3:c.69+7343G>C	XP_005272304.1:n.69+7343G>C
XM_006713849.2:c.69+7343G>C	XP_006713912.1:n.69+7343G>C
XM_011513376.1:c.-235-631G>C	XP_011511678.1:n.-235-631G>C
XM_011513377.1:c.-381+7343G>C	XP_011511679.1:n.-381+7343G>C
XM_011513378.1:c.69+7343G>C	XP_011511680.1:n.69+7343G>C
XM_011513379.1:c.69+7343G>C	XP_011511681.1:n.69+7343G>C
XM_011513380.1:c.69+7343G>C	XP_011511682.1:n.69+7343G>C
XR_924910.1:n.92+7343G>C
XM_006713849.3:c.69+7343G>C	XP_006713912.1:n.69+7343G>C
XM_017007636.1:c.-235-631G>C	XP_016863125.1:n.-235-631G>C
XM_017007637.1:c.-381+7343G>C	XP_016863126.1:n.-381+7343G>C
XR_001741093.1:n.92+7343G>C
NM_001017405.3:c.69+7343G>C MANE Select	NP_001017405.1:n.69+7343G>C
NM_001297430.2:c.69+7343G>C	NP_001284359.1:n.69+7343G>C
NM_001297431.2:c.69+7343G>C	NP_001284360.1:n.69+7343G>C
NM_005882.5:c.69+7343G>C	NP_005873.2:n.69+7343G>C
NR_123716.2:n.92+7343G>C