Canonical Allele Identifier: CA360104227

Gene: CARTPT

Linked Data

• gnomAD v4: 5-71719319-T-C
• MyVariant Identifiers: chr5:g.71015146T>C (hg19) ; chr5:g.71719319T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.71719319T>C , CM000667.2:g.71719319T>C	GRCh38
NC_000005.9:g.71015146T>C , CM000667.1:g.71015146T>C	GRCh37
NC_000005.8:g.71050902T>C	NCBI36
NG_015988.1:g.5157T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296777.5:c.26T>C MANE Select	ENSP00000296777.4:p.Leu9Pro
ENST00000296777.4:c.26T>C	ENSP00000296777.4:p.Leu9Pro
NM_004291.3:c.26T>C	NP_004282.1:p.Leu9Pro
NM_004291.4:c.26T>C MANE Select	NP_004282.1:p.Leu9Pro