Canonical Allele Identifier: CA10347694
Gene: MID1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2985095
ClinVar RCV Id: RCV003848222
dbSNP Id: rs779090894
gnomAD v2: X-10535150-C-T
gnomAD v3: X-10567110-C-T
gnomAD v4: X-10567110-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.10567110C>T , CM000685.2:g.10567110C>T GRCh38
NC_000023.10:g.10535150C>T , CM000685.1:g.10535150C>T GRCh37
NC_000023.9:g.10495150C>T NCBI36
NG_008197.1:g.271581G>A
NG_008197.2:g.271581G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000413894.6:c.438G>A ENSP00000391154.2:p.Leu146=
ENST00000706950.1:c.*440G>A ENSP00000516670.1:n.*440G>A
ENST00000616003.5:c.438G>A ENSP00000484712.1:p.Leu146=
ENST00000686012.1:n.726G>A
ENST00000687008.1:c.438G>A ENSP00000508734.1:p.Leu146=
ENST00000689180.1:n.344G>A
ENST00000689773.1:c.438G>A ENSP00000509925.1:p.Leu146=
ENST00000689988.1:n.628G>A
ENST00000690004.1:c.438G>A ENSP00000509730.1:p.Leu146=
ENST00000691943.1:c.438G>A ENSP00000508663.1:p.Leu146=
ENST00000693721.1:n.796G>A
ENST00000317552.9:c.438G>A MANE Select ENSP00000312678.4:p.Leu146=
ENST00000675073.1:c.438G>A ENSP00000501707.1:p.Leu146=
ENST00000317552.8:c.438G>A ENSP00000312678.4:p.Leu146=
ENST00000380779.5:c.438G>A ENSP00000370156.1:p.Leu146=
ENST00000380780.5:c.438G>A ENSP00000370157.1:p.Leu146=
ENST00000380782.6:c.438G>A ENSP00000370159.1:p.Leu146=
ENST00000380785.5:c.438G>A ENSP00000370162.1:p.Leu146=
ENST00000380787.5:c.438G>A ENSP00000370164.1:p.Leu146=
ENST00000413894.5:c.438G>A ENSP00000391154.1:p.Leu146=
ENST00000423614.1:c.438G>A ENSP00000387771.1:p.Leu146=
ENST00000453318.6:c.438G>A ENSP00000414521.2:p.Leu146=
ENST00000610939.1:c.438G>A ENSP00000483707.1:p.Leu146=
ENST00000616003.4:c.438G>A ENSP00000484712.1:p.Leu146=
NM_000381.3:c.438G>A NP_000372.1:p.Leu146=
NM_001098624.2:c.438G>A NP_001092094.1:p.Leu146=
NM_001193277.1:c.438G>A NP_001180206.1:p.Leu146=
NM_001193278.1:c.438G>A NP_001180207.1:p.Leu146=
NM_001193279.1:c.438G>A NP_001180208.1:p.Leu146=
NM_001193280.1:c.438G>A NP_001180209.1:p.Leu146=
NM_001193281.1:c.438G>A NP_001180210.1:p.Leu146=
NM_033289.1:c.438G>A NP_150631.1:p.Leu146=
NM_033290.3:c.438G>A NP_150632.1:p.Leu146=
XM_005274536.1:c.438G>A XP_005274593.1:p.Leu146=
XM_005274537.1:c.438G>A XP_005274594.1:p.Leu146=
XM_005274538.3:c.438G>A XP_005274595.1:p.Leu146=
XM_006724492.2:c.438G>A XP_006724555.1:p.Leu146=
XM_006724493.2:c.438G>A XP_006724556.1:p.Leu146=
XM_011545525.1:c.438G>A XP_011543827.1:p.Leu146=
XM_011545526.1:c.438G>A XP_011543828.1:p.Leu146=
XM_011545527.1:c.438G>A XP_011543829.1:p.Leu146=
NM_001347733.1:c.438G>A NP_001334662.1:p.Leu146=
NM_000381.4:c.438G>A MANE Select NP_000372.1:p.Leu146=
NM_001347733.2:c.438G>A NP_001334662.1:p.Leu146=
NM_033289.2:c.438G>A NP_150631.1:p.Leu146=
NM_033290.4:c.438G>A NP_150632.1:p.Leu146=