Canonical Allele Identifier: CA1001061993

Gene: ERMAP

Linked Data

• dbSNP Id: rs1654698811
• gnomAD v3: 1-42830750-G-C
• gnomAD v4: 1-42830750-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42830750G>C , CM000663.2:g.42830750G>C	GRCh38
NC_000001.10:g.43296421G>C , CM000663.1:g.43296421G>C	GRCh37
NC_000001.9:g.43069008G>C	NCBI36
NG_008749.1:g.18646G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372517.8:c.86-18G>C MANE Select	ENSP00000361595.2:n.86-18G>C
ENST00000487556.6:n.452-4288G>C
ENST00000642150.1:n.273-18G>C
ENST00000643061.1:n.555G>C
ENST00000647120.1:n.248-4288G>C
ENST00000328249.3:c.-203G>C	ENSP00000332439.3:n.-203G>C
ENST00000372514.7:c.86-18G>C	ENSP00000361592.3:n.86-18G>C
ENST00000372517.6:c.86-18G>C	ENSP00000361595.2:n.86-18G>C
ENST00000487556.5:n.247-4288G>C
NM_001017922.1:c.86-18G>C	NP_001017922.1:n.86-18G>C
NM_018538.3:c.86-18G>C	NP_061008.2:n.86-18G>C
XM_006710313.2:c.86-18G>C	XP_006710376.1:n.86-18G>C
XM_011540570.1:c.86-18G>C	XP_011538872.1:n.86-18G>C
XM_011540571.1:c.86-18G>C	XP_011538873.1:n.86-18G>C
XM_006710313.4:c.86-18G>C	XP_006710376.1:n.86-18G>C
XM_011540570.3:c.86-18G>C	XP_011538872.1:n.86-18G>C
XM_011540571.3:c.86-18G>C	XP_011538873.1:n.86-18G>C
NM_001017922.2:c.86-18G>C MANE Select	NP_001017922.1:n.86-18G>C
NM_018538.4:c.86-18G>C	NP_061008.2:n.86-18G>C