Canonical Allele Identifier: CA802710

Gene: ERMAP

Linked Data

• ClinVar Variation Id: 785937
• ClinVar RCV Id: RCV000967914
• dbSNP Id: rs33954154
• ExAC: 1:43296572 C / T
• gnomAD v2: 1-43296572-C-T
• gnomAD v3: 1-42830901-C-T
• gnomAD v4: 1-42830901-C-T
• MyVariant Identifiers: chr1:g.43296572C>T (hg19) ; chr1:g.42830901C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42830901C>T , CM000663.2:g.42830901C>T	GRCh38
NC_000001.10:g.43296572C>T , CM000663.1:g.43296572C>T	GRCh37
NC_000001.9:g.43069159C>T	NCBI36
NG_008749.1:g.18797C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372517.8:c.219C>T MANE Select	ENSP00000361595.2:p.Arg73=
ENST00000487556.6:n.452-4137C>T
ENST00000642150.1:n.406C>T
ENST00000647120.1:n.248-4137C>T
ENST00000328249.3:c.-52C>T	ENSP00000332439.3:n.-52C>T
ENST00000372514.7:c.219C>T	ENSP00000361592.3:p.Arg73=
ENST00000372517.6:c.219C>T	ENSP00000361595.2:p.Arg73=
ENST00000487556.5:n.247-4137C>T
NM_001017922.1:c.219C>T	NP_001017922.1:p.Arg73=
NM_018538.3:c.219C>T	NP_061008.2:p.Arg73=
XM_006710313.2:c.219C>T	XP_006710376.1:p.Arg73=
XM_011540570.1:c.219C>T	XP_011538872.1:p.Arg73=
XM_011540571.1:c.219C>T	XP_011538873.1:p.Arg73=
XM_006710313.4:c.219C>T	XP_006710376.1:p.Arg73=
XM_011540570.3:c.219C>T	XP_011538872.1:p.Arg73=
XM_011540571.3:c.219C>T	XP_011538873.1:p.Arg73=
NM_001017922.2:c.219C>T MANE Select	NP_001017922.1:p.Arg73=
NM_018538.4:c.219C>T	NP_061008.2:p.Arg73=