Canonical Allele Identifier: CA360104299
Gene: CARTPT HGNC NCBI

Linked Data

gnomAD v4: 5-71719361-T-C
MyVariant Identifiers: chr5:g.71015188T>C (hg19) chr5:g.71719361T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.71719361T>C , CM000667.2:g.71719361T>C GRCh38
NC_000005.9:g.71015188T>C , CM000667.1:g.71015188T>C GRCh37
NC_000005.8:g.71050944T>C NCBI36
NG_015988.1:g.5199T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000296777.5:c.68T>C MANE Select ENSP00000296777.4:p.Leu23Ser
ENST00000296777.4:c.68T>C ENSP00000296777.4:p.Leu23Ser
NM_004291.3:c.68T>C NP_004282.1:p.Leu23Ser
NM_004291.4:c.68T>C MANE Select NP_004282.1:p.Leu23Ser
Search 100 bp 5'
Search 100 bp 3'