Canonical Allele Identifier: CA445021269
Gene: CARTPT HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.71015171G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.71719344G>C , CM000667.2:g.71719344G>C GRCh38
NC_000005.9:g.71015171G>C , CM000667.1:g.71015171G>C GRCh37
NC_000005.8:g.71050927G>C NCBI36
NG_015988.1:g.5182G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000296777.5:c.51G>C MANE Select ENSP00000296777.4:p.Leu17=
ENST00000296777.4:c.51G>C ENSP00000296777.4:p.Leu17=
NM_004291.3:c.51G>C NP_004282.1:p.Leu17=
NM_004291.4:c.51G>C MANE Select NP_004282.1:p.Leu17=