Canonical Allele Identifier: CA360104272

Gene: CARTPT

Linked Data

• MyVariant Identifiers: chr5:g.71015173T>G (hg19) ; chr5:g.71719346T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.71719346T>G , CM000667.2:g.71719346T>G	GRCh38
NC_000005.9:g.71015173T>G , CM000667.1:g.71015173T>G	GRCh37
NC_000005.8:g.71050929T>G	NCBI36
NG_015988.1:g.5184T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296777.5:c.53T>G MANE Select	ENSP00000296777.4:p.Leu18Arg
ENST00000296777.4:c.53T>G	ENSP00000296777.4:p.Leu18Arg
NM_004291.3:c.53T>G	NP_004282.1:p.Leu18Arg
NM_004291.4:c.53T>G MANE Select	NP_004282.1:p.Leu18Arg