Canonical Allele Identifier: CA360104424
Gene: CARTPT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.71719420G>T , CM000667.2:g.71719420G>T GRCh38
NC_000005.9:g.71015247G>T , CM000667.1:g.71015247G>T GRCh37
NC_000005.8:g.71051003G>T NCBI36
NG_015988.1:g.5258G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000296777.5:c.127G>T MANE Select ENSP00000296777.4:p.Ala43Ser
ENST00000296777.4:c.127G>T ENSP00000296777.4:p.Ala43Ser
NM_004291.3:c.127G>T NP_004282.1:p.Ala43Ser
NM_004291.4:c.127G>T MANE Select NP_004282.1:p.Ala43Ser