Canonical Allele Identifier: CA360104462

Gene: CARTPT

Linked Data

• MyVariant Identifiers: chr5:g.71015265C>G (hg19) ; chr5:g.71719438C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.71719438C>G , CM000667.2:g.71719438C>G	GRCh38
NC_000005.9:g.71015265C>G , CM000667.1:g.71015265C>G	GRCh37
NC_000005.8:g.71051021C>G	NCBI36
NG_015988.1:g.5276C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296777.5:c.145C>G MANE Select	ENSP00000296777.4:p.His49Asp
ENST00000296777.4:c.145C>G	ENSP00000296777.4:p.His49Asp
NM_004291.3:c.145C>G	NP_004282.1:p.His49Asp
NM_004291.4:c.145C>G MANE Select	NP_004282.1:p.His49Asp