Canonical Allele Identifier: CA445021282
Gene: CARTPT HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.71015186G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.71719359G>C , CM000667.2:g.71719359G>C GRCh38
NC_000005.9:g.71015186G>C , CM000667.1:g.71015186G>C GRCh37
NC_000005.8:g.71050942G>C NCBI36
NG_015988.1:g.5197G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000296777.5:c.66G>C MANE Select ENSP00000296777.4:p.Leu22=
ENST00000296777.4:c.66G>C ENSP00000296777.4:p.Leu22=
NM_004291.3:c.66G>C NP_004282.1:p.Leu22=
NM_004291.4:c.66G>C MANE Select NP_004282.1:p.Leu22=