Canonical Allele Identifier: CA2645189049
Gene: ERMAP HGNC NCBI

Linked Data

gnomAD v4: 1-42830696-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42830696C>T , CM000663.2:g.42830696C>T GRCh38
NC_000001.10:g.43296367C>T , CM000663.1:g.43296367C>T GRCh37
NC_000001.9:g.43068954C>T NCBI36
NG_008749.1:g.18592C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000372517.8:c.86-72C>T MANE Select ENSP00000361595.2:n.86-72C>T
ENST00000487556.6:n.452-4342C>T
ENST00000642150.1:n.273-72C>T
ENST00000643061.1:n.501C>T
ENST00000647120.1:n.248-4342C>T
ENST00000328249.3:c.-257C>T ENSP00000332439.3:n.-257C>T
ENST00000372514.7:c.86-72C>T ENSP00000361592.3:n.86-72C>T
ENST00000372517.6:c.86-72C>T ENSP00000361595.2:n.86-72C>T
ENST00000487556.5:n.247-4342C>T
NM_001017922.1:c.86-72C>T NP_001017922.1:n.86-72C>T
NM_018538.3:c.86-72C>T NP_061008.2:n.86-72C>T
XM_006710313.2:c.86-72C>T XP_006710376.1:n.86-72C>T
XM_011540570.1:c.86-72C>T XP_011538872.1:n.86-72C>T
XM_011540571.1:c.86-72C>T XP_011538873.1:n.86-72C>T
XM_006710313.4:c.86-72C>T XP_006710376.1:n.86-72C>T
XM_011540570.3:c.86-72C>T XP_011538872.1:n.86-72C>T
XM_011540571.3:c.86-72C>T XP_011538873.1:n.86-72C>T
NM_001017922.2:c.86-72C>T MANE Select NP_001017922.1:n.86-72C>T
NM_018538.4:c.86-72C>T NP_061008.2:n.86-72C>T