Canonical Allele Identifier: CA14991104

Gene: EMID1

Linked Data

• dbSNP Id: rs132390
• gnomAD v2: 22-29621477-C-T
• gnomAD v3: 22-29225488-C-T
• gnomAD v4: 22-29225488-C-T
• MyVariant Identifiers: chr22:g.29621477C>T (hg19) ; chr22:g.29225488C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29225488C>T , CM000684.2:g.29225488C>T	GRCh38
NC_000022.10:g.29621477C>T , CM000684.1:g.29621477C>T	GRCh37
NC_000022.9:g.27951477C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000334018.11:c.403+272C>T MANE Select	ENSP00000335481.6:n.403+272C>T
ENST00000334018.10:c.403+272C>T	ENSP00000335481.6:n.403+272C>T
ENST00000404755.7:c.403+272C>T	ENSP00000385414.3:n.403+272C>T
ENST00000404820.7:c.403+272C>T	ENSP00000384452.3:n.403+272C>T
ENST00000429226.5:c.403+272C>T	ENSP00000403816.1:n.403+272C>T
ENST00000430127.1:c.320-1002C>T	ENSP00000399760.1:n.320-1002C>T
ENST00000435427.5:c.102-5532C>T	ENSP00000402621.1:n.102-5532C>T
ENST00000484039.5:n.138+272C>T
NM_001267895.1:c.397+272C>T	NP_001254824.1:n.397+272C>T
NM_133455.3:c.403+272C>T	NP_597712.2:n.403+272C>T
XM_005261328.2:c.403+272C>T	XP_005261385.1:n.403+272C>T
XM_005261329.2:c.320-1002C>T	XP_005261386.1:n.320-1002C>T
XM_011529868.1:c.403+272C>T	XP_011528170.1:n.403+272C>T
XM_011529869.1:c.403+272C>T	XP_011528171.1:n.403+272C>T
XM_011529870.1:c.403+272C>T	XP_011528172.1:n.403+272C>T
XM_011529871.1:c.320-1002C>T	XP_011528173.1:n.320-1002C>T
XM_011529872.1:c.403+272C>T	XP_011528174.1:n.403+272C>T
XM_011529873.1:c.403+272C>T	XP_011528175.1:n.403+272C>T
XM_011529874.1:c.208+272C>T	XP_011528176.1:n.208+272C>T
XM_011529875.1:c.1-5532C>T	XP_011528177.1:n.1-5532C>T
XM_011529876.1:c.-219+272C>T	XP_011528178.1:n.-219+272C>T
XR_937808.1:n.501+272C>T
XR_937809.1:n.502+272C>T
XR_937810.1:n.501+272C>T
XR_938137.1:n.752+243G>A
XM_005261328.3:c.403+272C>T	XP_005261385.1:n.403+272C>T
XM_005261329.3:c.320-1002C>T	XP_005261386.1:n.320-1002C>T
XM_011529868.3:c.403+272C>T	XP_011528170.1:n.403+272C>T
XM_011529869.3:c.403+272C>T	XP_011528171.1:n.403+272C>T
XM_011529870.3:c.403+272C>T	XP_011528172.1:n.403+272C>T
XM_011529871.3:c.320-1002C>T	XP_011528173.1:n.320-1002C>T
XM_011529872.3:c.403+272C>T	XP_011528174.1:n.403+272C>T
XM_011529873.3:c.403+272C>T	XP_011528175.1:n.403+272C>T
XM_011529874.2:c.208+272C>T	XP_011528176.1:n.208+272C>T
XM_011529875.2:c.1-5532C>T	XP_011528177.1:n.1-5532C>T
XM_017028589.1:c.208+272C>T	XP_016884078.1:n.208+272C>T
XR_937808.3:n.528+272C>T
XR_937809.3:n.528+272C>T
XR_937810.3:n.528+272C>T
NM_133455.4:c.403+272C>T MANE Select	NP_597712.2:n.403+272C>T
NM_001267895.2:c.397+272C>T	NP_001254824.1:n.397+272C>T