Canonical Allele Identifier: CA360104324

Gene: CARTPT

Linked Data

• MyVariant Identifiers: chr5:g.71015200C>A (hg19) ; chr5:g.71719373C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.71719373C>A , CM000667.2:g.71719373C>A	GRCh38
NC_000005.9:g.71015200C>A , CM000667.1:g.71015200C>A	GRCh37
NC_000005.8:g.71050956C>A	NCBI36
NG_015988.1:g.5211C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296777.5:c.80C>A MANE Select	ENSP00000296777.4:p.Ala27Asp
ENST00000296777.4:c.80C>A	ENSP00000296777.4:p.Ala27Asp
NM_004291.3:c.80C>A	NP_004282.1:p.Ala27Asp
NM_004291.4:c.80C>A MANE Select	NP_004282.1:p.Ala27Asp