Canonical Allele Identifier: CA10347697

Gene: MID1

Linked Data

• ClinVar Variation Id: 2962492
• ClinVar RCV Id: RCV003825122
• dbSNP Id: rs371028819
• ExAC: X:10535158 C / T
• gnomAD v2: X-10535158-C-T
• gnomAD v3: X-10567118-C-T
• gnomAD v4: X-10567118-C-T
• COSMIC: COSM1112483
• MyVariant Identifiers: chrX:g.10535158C>T (hg19) ; chrX:g.10567118C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.10567118C>T , CM000685.2:g.10567118C>T	GRCh38
NC_000023.10:g.10535158C>T , CM000685.1:g.10535158C>T	GRCh37
NC_000023.9:g.10495158C>T	NCBI36
NG_008197.1:g.271573G>A
NG_008197.2:g.271573G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000413894.6:c.430G>A	ENSP00000391154.2:p.Glu144Lys
ENST00000706950.1:c.*432G>A	ENSP00000516670.1:n.*432G>A
ENST00000616003.5:c.430G>A	ENSP00000484712.1:p.Glu144Lys
ENST00000686012.1:n.718G>A
ENST00000687008.1:c.430G>A	ENSP00000508734.1:p.Glu144Lys
ENST00000689180.1:n.336G>A
ENST00000689773.1:c.430G>A	ENSP00000509925.1:p.Glu144Lys
ENST00000689988.1:n.620G>A
ENST00000690004.1:c.430G>A	ENSP00000509730.1:p.Glu144Lys
ENST00000691943.1:c.430G>A	ENSP00000508663.1:p.Glu144Lys
ENST00000693721.1:n.788G>A
ENST00000317552.9:c.430G>A MANE Select	ENSP00000312678.4:p.Glu144Lys
ENST00000675073.1:c.430G>A	ENSP00000501707.1:p.Glu144Lys
ENST00000317552.8:c.430G>A	ENSP00000312678.4:p.Glu144Lys
ENST00000380779.5:c.430G>A	ENSP00000370156.1:p.Glu144Lys
ENST00000380780.5:c.430G>A	ENSP00000370157.1:p.Glu144Lys
ENST00000380782.6:c.430G>A	ENSP00000370159.1:p.Glu144Lys
ENST00000380785.5:c.430G>A	ENSP00000370162.1:p.Glu144Lys
ENST00000380787.5:c.430G>A	ENSP00000370164.1:p.Glu144Lys
ENST00000413894.5:c.430G>A	ENSP00000391154.1:p.Glu144Lys
ENST00000423614.1:c.430G>A	ENSP00000387771.1:p.Glu144Lys
ENST00000453318.6:c.430G>A	ENSP00000414521.2:p.Glu144Lys
ENST00000610939.1:c.430G>A	ENSP00000483707.1:p.Glu144Lys
ENST00000616003.4:c.430G>A	ENSP00000484712.1:p.Glu144Lys
NM_000381.3:c.430G>A	NP_000372.1:p.Glu144Lys
NM_001098624.2:c.430G>A	NP_001092094.1:p.Glu144Lys
NM_001193277.1:c.430G>A	NP_001180206.1:p.Glu144Lys
NM_001193278.1:c.430G>A	NP_001180207.1:p.Glu144Lys
NM_001193279.1:c.430G>A	NP_001180208.1:p.Glu144Lys
NM_001193280.1:c.430G>A	NP_001180209.1:p.Glu144Lys
NM_001193281.1:c.430G>A	NP_001180210.1:p.Glu144Lys
NM_033289.1:c.430G>A	NP_150631.1:p.Glu144Lys
NM_033290.3:c.430G>A	NP_150632.1:p.Glu144Lys
XM_005274536.1:c.430G>A	XP_005274593.1:p.Glu144Lys
XM_005274537.1:c.430G>A	XP_005274594.1:p.Glu144Lys
XM_005274538.3:c.430G>A	XP_005274595.1:p.Glu144Lys
XM_006724492.2:c.430G>A	XP_006724555.1:p.Glu144Lys
XM_006724493.2:c.430G>A	XP_006724556.1:p.Glu144Lys
XM_011545525.1:c.430G>A	XP_011543827.1:p.Glu144Lys
XM_011545526.1:c.430G>A	XP_011543828.1:p.Glu144Lys
XM_011545527.1:c.430G>A	XP_011543829.1:p.Glu144Lys
NM_001347733.1:c.430G>A	NP_001334662.1:p.Glu144Lys
NM_000381.4:c.430G>A MANE Select	NP_000372.1:p.Glu144Lys
NM_001347733.2:c.430G>A	NP_001334662.1:p.Glu144Lys
NM_033289.2:c.430G>A	NP_150631.1:p.Glu144Lys
NM_033290.4:c.430G>A	NP_150632.1:p.Glu144Lys