Canonical Allele Identifier: CA337866021
Gene: TMEM240 HGNC NCBI

Linked Data

dbSNP Id: rs2100695128
MyVariant Identifiers: chr1:g.1470831G>C (hg19) chr1:g.1535451G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1535451G>C , CM000663.2:g.1535451G>C GRCh38
NC_000001.10:g.1470831G>C , CM000663.1:g.1470831G>C GRCh37
NC_000001.9:g.1460694G>C NCBI36
NG_041807.1:g.9910C>G
NG_053035.1:g.28309G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000378733.9:c.430C>G MANE Select ENSP00000368007.4:p.Pro144Ala
ENST00000378733.8:c.430C>G ENSP00000368007.4:p.Pro144Ala
ENST00000425828.1:c.430C>G ENSP00000400311.1:p.Pro144Ala
NM_001114748.1:c.430C>G NP_001108220.1:p.Pro144Ala
NM_001114748.2:c.430C>G MANE Select NP_001108220.1:p.Pro144Ala
Search 100 bp 5'
Search 100 bp 3'