Canonical Allele Identifier: CA360104201

Gene: CARTPT

Linked Data

• gnomAD v4: 5-71719306-C-G
• MyVariant Identifiers: chr5:g.71015133C>G (hg19) ; chr5:g.71719306C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.71719306C>G , CM000667.2:g.71719306C>G	GRCh38
NC_000005.9:g.71015133C>G , CM000667.1:g.71015133C>G	GRCh37
NC_000005.8:g.71050889C>G	NCBI36
NG_015988.1:g.5144C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296777.5:c.13C>G MANE Select	ENSP00000296777.4:p.Arg5Gly
ENST00000296777.4:c.13C>G	ENSP00000296777.4:p.Arg5Gly
NM_004291.3:c.13C>G	NP_004282.1:p.Arg5Gly
NM_004291.4:c.13C>G MANE Select	NP_004282.1:p.Arg5Gly