Canonical Allele Identifier: CA14730178
Gene: MCEMP1 HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.7677916T>C
GRCh37 chr19:g.7742802T>C
gnomAD v2:
19:7742802 T / C
gnomAD v3:
19:7677916 T / C
gnomAD v4:
chr19-7677916-T-C
Joint Max Group AF 0.74519259 (SAS)
Genomes Max Group AF 0.74525777 (SAS)
Exomes Max Group AF 0.74377267 (SAS)
dbSNP:
10401670
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7677916T>C , CM000681.2:g.7677916T>C GRCh38
NC_000019.9:g.7742802T>C , CM000681.1:g.7742802T>C GRCh37
NC_000019.8:g.7648802T>C NCBI36
NG_055288.1:g.2096T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000333598.8:c.146-188T>C MANE Select ENSP00000329920.3:n.146-188T>C
ENST00000333598.7:c.185-188T>C ENSP00000329920.2:n.185-188T>C
ENST00000597445.1:c.56-188T>C ENSP00000471413.1:n.56-188T>C
NM_174918.2:c.185-188T>C NP_777578.2:n.185-188T>C
NM_174918.3:c.146-188T>C MANE Select NP_777578.3:n.146-188T>C
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