Canonical Allele Identifier: CA360104189
Gene: CARTPT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.71719301G>A , CM000667.2:g.71719301G>A GRCh38
NC_000005.9:g.71015128G>A , CM000667.1:g.71015128G>A GRCh37
NC_000005.8:g.71050884G>A NCBI36
NG_015988.1:g.5139G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000296777.5:c.8G>A MANE Select ENSP00000296777.4:p.Ser3Asn
ENST00000296777.4:c.8G>A ENSP00000296777.4:p.Ser3Asn
NM_004291.3:c.8G>A NP_004282.1:p.Ser3Asn
NM_004291.4:c.8G>A MANE Select NP_004282.1:p.Ser3Asn