Canonical Allele Identifier: CA339950060
Gene: ERMAP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42830981T>C , CM000663.2:g.42830981T>C GRCh38
NC_000001.10:g.43296652T>C , CM000663.1:g.43296652T>C GRCh37
NC_000001.9:g.43069239T>C NCBI36
NG_008749.1:g.18877T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000372517.8:c.299T>C MANE Select ENSP00000361595.2:p.Leu100Pro
ENST00000487556.6:n.452-4057T>C
ENST00000642150.1:n.486T>C
ENST00000647120.1:n.248-4057T>C
ENST00000328249.3:c.29T>C ENSP00000332439.3:p.Leu10Pro
ENST00000372514.7:c.299T>C ENSP00000361592.3:p.Leu100Pro
ENST00000372517.6:c.299T>C ENSP00000361595.2:p.Leu100Pro
ENST00000487556.5:n.247-4057T>C
NM_001017922.1:c.299T>C NP_001017922.1:p.Leu100Pro
NM_018538.3:c.299T>C NP_061008.2:p.Leu100Pro
XM_006710313.2:c.299T>C XP_006710376.1:p.Leu100Pro
XM_011540570.1:c.299T>C XP_011538872.1:p.Leu100Pro
XM_011540571.1:c.299T>C XP_011538873.1:p.Leu100Pro
XM_006710313.4:c.299T>C XP_006710376.1:p.Leu100Pro
XM_011540570.3:c.299T>C XP_011538872.1:p.Leu100Pro
XM_011540571.3:c.299T>C XP_011538873.1:p.Leu100Pro
NM_001017922.2:c.299T>C MANE Select NP_001017922.1:p.Leu100Pro
NM_018538.4:c.299T>C NP_061008.2:p.Leu100Pro