Canonical Allele Identifier: CA3298255
Gene: CARTPT HGNC NCBI

Linked Data

dbSNP Id: rs769770010
gnomAD v2: 5-71015121-A-G
gnomAD v3: 5-71719294-A-G
gnomAD v4: 5-71719294-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.71719294A>G , CM000667.2:g.71719294A>G GRCh38
NC_000005.9:g.71015121A>G , CM000667.1:g.71015121A>G GRCh37
NC_000005.8:g.71050877A>G NCBI36
NG_015988.1:g.5132A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000296777.5:c.1A>G MANE Select ENSP00000296777.4:p.Met1Val
ENST00000296777.4:c.1A>G ENSP00000296777.4:p.Met1Val
NM_004291.3:c.1A>G NP_004282.1:p.Met1Val
NM_004291.4:c.1A>G MANE Select NP_004282.1:p.Met1Val