Canonical Allele Identifier: CA339950300
Gene: ERMAP HGNC NCBI

Linked Data

gnomAD v4: 1-42831013-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42831013C>A , CM000663.2:g.42831013C>A GRCh38
NC_000001.10:g.43296684C>A , CM000663.1:g.43296684C>A GRCh37
NC_000001.9:g.43069271C>A NCBI36
NG_008749.1:g.18909C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000372517.8:c.331C>A MANE Select ENSP00000361595.2:p.Leu111Met
ENST00000487556.6:n.452-4025C>A
ENST00000642150.1:n.518C>A
ENST00000647120.1:n.248-4025C>A
ENST00000328249.3:c.61C>A ENSP00000332439.3:p.Leu21Met
ENST00000372514.7:c.331C>A ENSP00000361592.3:p.Leu111Met
ENST00000372517.6:c.331C>A ENSP00000361595.2:p.Leu111Met
ENST00000487556.5:n.247-4025C>A
NM_001017922.1:c.331C>A NP_001017922.1:p.Leu111Met
NM_018538.3:c.331C>A NP_061008.2:p.Leu111Met
XM_006710313.2:c.331C>A XP_006710376.1:p.Leu111Met
XM_011540570.1:c.331C>A XP_011538872.1:p.Leu111Met
XM_011540571.1:c.331C>A XP_011538873.1:p.Leu111Met
XM_006710313.4:c.331C>A XP_006710376.1:p.Leu111Met
XM_011540570.3:c.331C>A XP_011538872.1:p.Leu111Met
XM_011540571.3:c.331C>A XP_011538873.1:p.Leu111Met
NM_001017922.2:c.331C>A MANE Select NP_001017922.1:p.Leu111Met
NM_018538.4:c.331C>A NP_061008.2:p.Leu111Met