Canonical Allele Identifier: CA339950789

Gene: ERMAP

Linked Data

• MyVariant Identifiers: chr1:g.43296758A>C (hg19) ; chr1:g.42831087A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42831087A>C , CM000663.2:g.42831087A>C	GRCh38
NC_000001.10:g.43296758A>C , CM000663.1:g.43296758A>C	GRCh37
NC_000001.9:g.43069345A>C	NCBI36
NG_008749.1:g.18983A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372517.8:c.405A>C MANE Select	ENSP00000361595.2:p.Lys135Asn
ENST00000487556.6:n.452-3951A>C
ENST00000642150.1:n.592A>C
ENST00000647120.1:n.248-3951A>C
ENST00000328249.3:c.135A>C	ENSP00000332439.3:p.Lys45Asn
ENST00000372514.7:c.405A>C	ENSP00000361592.3:p.Lys135Asn
ENST00000372517.6:c.405A>C	ENSP00000361595.2:p.Lys135Asn
ENST00000487556.5:n.247-3951A>C
NM_001017922.1:c.405A>C	NP_001017922.1:p.Lys135Asn
NM_018538.3:c.405A>C	NP_061008.2:p.Lys135Asn
XM_006710313.2:c.405A>C	XP_006710376.1:p.Lys135Asn
XM_011540570.1:c.405A>C	XP_011538872.1:p.Lys135Asn
XM_011540571.1:c.405A>C	XP_011538873.1:p.Lys135Asn
XM_006710313.4:c.405A>C	XP_006710376.1:p.Lys135Asn
XM_011540570.3:c.405A>C	XP_011538872.1:p.Lys135Asn
XM_011540571.3:c.405A>C	XP_011538873.1:p.Lys135Asn
NM_001017922.2:c.405A>C MANE Select	NP_001017922.1:p.Lys135Asn
NM_018538.4:c.405A>C	NP_061008.2:p.Lys135Asn