Canonical Allele Identifier: CA337867033

Gene: TMEM240

Linked Data

• MyVariant Identifiers: chr1:g.1471114G>C (hg19) ; chr1:g.1535734G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1535734G>C , CM000663.2:g.1535734G>C	GRCh38
NC_000001.10:g.1471114G>C , CM000663.1:g.1471114G>C	GRCh37
NC_000001.9:g.1460977G>C	NCBI36
NG_041807.1:g.9627C>G
NG_053035.1:g.28592G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378733.9:c.228C>G MANE Select	ENSP00000368007.4:p.Asn76Lys
ENST00000378733.8:c.228C>G	ENSP00000368007.4:p.Asn76Lys
ENST00000425828.1:c.228C>G	ENSP00000400311.1:p.Asn76Lys
NM_001114748.1:c.228C>G	NP_001108220.1:p.Asn76Lys
NM_001114748.2:c.228C>G MANE Select	NP_001108220.1:p.Asn76Lys