Canonical Allele Identifier: CA445021230
Gene: CARTPT HGNC NCBI

Linked Data

gnomAD v4: 5-71719317-G-A
MyVariant Identifiers: chr5:g.71015144G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.71719317G>A , CM000667.2:g.71719317G>A GRCh38
NC_000005.9:g.71015144G>A , CM000667.1:g.71015144G>A GRCh37
NC_000005.8:g.71050900G>A NCBI36
NG_015988.1:g.5155G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000296777.5:c.24G>A MANE Select ENSP00000296777.4:p.Leu8=
ENST00000296777.4:c.24G>A ENSP00000296777.4:p.Leu8=
NM_004291.3:c.24G>A NP_004282.1:p.Leu8=
NM_004291.4:c.24G>A MANE Select NP_004282.1:p.Leu8=