Canonical Allele Identifier: CA360104287

Gene: CARTPT

Linked Data

• gnomAD v4: 5-71719354-C-A
• MyVariant Identifiers: chr5:g.71015181C>A (hg19) ; chr5:g.71719354C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.71719354C>A , CM000667.2:g.71719354C>A	GRCh38
NC_000005.9:g.71015181C>A , CM000667.1:g.71015181C>A	GRCh37
NC_000005.8:g.71050937C>A	NCBI36
NG_015988.1:g.5192C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296777.5:c.61C>A MANE Select	ENSP00000296777.4:p.Pro21Thr
ENST00000296777.4:c.61C>A	ENSP00000296777.4:p.Pro21Thr
NM_004291.3:c.61C>A	NP_004282.1:p.Pro21Thr
NM_004291.4:c.61C>A MANE Select	NP_004282.1:p.Pro21Thr