Canonical Allele Identifier: CA360104456
Gene: CARTPT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.71719435T>G , CM000667.2:g.71719435T>G GRCh38
NC_000005.9:g.71015262T>G , CM000667.1:g.71015262T>G GRCh37
NC_000005.8:g.71051018T>G NCBI36
NG_015988.1:g.5273T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000296777.5:c.142T>G MANE Select ENSP00000296777.4:p.Ser48Ala
ENST00000296777.4:c.142T>G ENSP00000296777.4:p.Ser48Ala
NM_004291.3:c.142T>G NP_004282.1:p.Ser48Ala
NM_004291.4:c.142T>G MANE Select NP_004282.1:p.Ser48Ala