Canonical Allele Identifier: CA445021257
Gene: CARTPT HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.71015168G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.71719341G>A , CM000667.2:g.71719341G>A GRCh38
NC_000005.9:g.71015168G>A , CM000667.1:g.71015168G>A GRCh37
NC_000005.8:g.71050924G>A NCBI36
NG_015988.1:g.5179G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000296777.5:c.48G>A MANE Select ENSP00000296777.4:p.Leu16=
ENST00000296777.4:c.48G>A ENSP00000296777.4:p.Leu16=
NM_004291.3:c.48G>A NP_004282.1:p.Leu16=
NM_004291.4:c.48G>A MANE Select NP_004282.1:p.Leu16=