Canonical Allele Identifier: CA339950143

Gene: ERMAP

Linked Data

• dbSNP Id: rs1401630197
• gnomAD v4: 1-42830992-G-C
• MyVariant Identifiers: chr1:g.43296663G>C (hg19) ; chr1:g.42830992G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42830992G>C , CM000663.2:g.42830992G>C	GRCh38
NC_000001.10:g.43296663G>C , CM000663.1:g.43296663G>C	GRCh37
NC_000001.9:g.43069250G>C	NCBI36
NG_008749.1:g.18888G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372517.8:c.310G>C MANE Select	ENSP00000361595.2:p.Ala104Pro
ENST00000487556.6:n.452-4046G>C
ENST00000642150.1:n.497G>C
ENST00000647120.1:n.248-4046G>C
ENST00000328249.3:c.40G>C	ENSP00000332439.3:p.Ala14Pro
ENST00000372514.7:c.310G>C	ENSP00000361592.3:p.Ala104Pro
ENST00000372517.6:c.310G>C	ENSP00000361595.2:p.Ala104Pro
ENST00000487556.5:n.247-4046G>C
NM_001017922.1:c.310G>C	NP_001017922.1:p.Ala104Pro
NM_018538.3:c.310G>C	NP_061008.2:p.Ala104Pro
XM_006710313.2:c.310G>C	XP_006710376.1:p.Ala104Pro
XM_011540570.1:c.310G>C	XP_011538872.1:p.Ala104Pro
XM_011540571.1:c.310G>C	XP_011538873.1:p.Ala104Pro
XM_006710313.4:c.310G>C	XP_006710376.1:p.Ala104Pro
XM_011540570.3:c.310G>C	XP_011538872.1:p.Ala104Pro
XM_011540571.3:c.310G>C	XP_011538873.1:p.Ala104Pro
NM_001017922.2:c.310G>C MANE Select	NP_001017922.1:p.Ala104Pro
NM_018538.4:c.310G>C	NP_061008.2:p.Ala104Pro