Canonical Allele Identifier: CA337867344

Gene: TMEM240

Linked Data

• MyVariant Identifiers: chr1:g.1471173G>T (hg19) ; chr1:g.1535793G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1535793G>T , CM000663.2:g.1535793G>T	GRCh38
NC_000001.10:g.1471173G>T , CM000663.1:g.1471173G>T	GRCh37
NC_000001.9:g.1461036G>T	NCBI36
NG_041807.1:g.9568C>A
NG_053035.1:g.28651G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378733.9:c.169C>A MANE Select	ENSP00000368007.4:p.His57Asn
ENST00000378733.8:c.169C>A	ENSP00000368007.4:p.His57Asn
ENST00000425828.1:c.169C>A	ENSP00000400311.1:p.His57Asn
NM_001114748.1:c.169C>A	NP_001108220.1:p.His57Asn
NM_001114748.2:c.169C>A MANE Select	NP_001108220.1:p.His57Asn