Canonical Allele Identifier: CA445021302
Gene: CARTPT HGNC NCBI

Linked Data

gnomAD v4: 5-71719389-G-A
MyVariant Identifiers: chr5:g.71015216G>A (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.71719389G>A , CM000667.2:g.71719389G>A GRCh38
NC_000005.9:g.71015216G>A , CM000667.1:g.71015216G>A GRCh37
NC_000005.8:g.71050972G>A NCBI36
NG_015988.1:g.5227G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000296777.5:c.96G>A MANE Select ENSP00000296777.4:p.Glu32=
ENST00000296777.4:c.96G>A ENSP00000296777.4:p.Glu32=
NM_004291.3:c.96G>A NP_004282.1:p.Glu32=
NM_004291.4:c.96G>A MANE Select NP_004282.1:p.Glu32=
Search 100 bp 5'
Search 100 bp 3'