Canonical Allele Identifier: CA360104213

Gene: CARTPT

Linked Data

• gnomAD v4: 5-71719313-G-A
• MyVariant Identifiers: chr5:g.71015140G>A (hg19) ; chr5:g.71719313G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.71719313G>A , CM000667.2:g.71719313G>A	GRCh38
NC_000005.9:g.71015140G>A , CM000667.1:g.71015140G>A	GRCh37
NC_000005.8:g.71050896G>A	NCBI36
NG_015988.1:g.5151G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296777.5:c.20G>A MANE Select	ENSP00000296777.4:p.Arg7Lys
ENST00000296777.4:c.20G>A	ENSP00000296777.4:p.Arg7Lys
NM_004291.3:c.20G>A	NP_004282.1:p.Arg7Lys
NM_004291.4:c.20G>A MANE Select	NP_004282.1:p.Arg7Lys