Canonical Allele Identifier: CA360104344
Gene: CARTPT HGNC NCBI

Linked Data

gnomAD v4: 5-71719382-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.71719382A>G , CM000667.2:g.71719382A>G GRCh38
NC_000005.9:g.71015209A>G , CM000667.1:g.71015209A>G GRCh37
NC_000005.8:g.71050965A>G NCBI36
NG_015988.1:g.5220A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000296777.5:c.89A>G MANE Select ENSP00000296777.4:p.Asp30Gly
ENST00000296777.4:c.89A>G ENSP00000296777.4:p.Asp30Gly
NM_004291.3:c.89A>G NP_004282.1:p.Asp30Gly
NM_004291.4:c.89A>G MANE Select NP_004282.1:p.Asp30Gly