Canonical Allele Identifier: CA3298256
Gene: CARTPT HGNC NCBI

Linked Data

ClinVar Variation Id: 3137469
ClinVar RCV Id: RCV004427301
dbSNP Id: rs774906197
gnomAD v2: 5-71015127-A-G
gnomAD v3: 5-71719300-A-G
gnomAD v4: 5-71719300-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.71719300A>G , CM000667.2:g.71719300A>G GRCh38
NC_000005.9:g.71015127A>G , CM000667.1:g.71015127A>G GRCh37
NC_000005.8:g.71050883A>G NCBI36
NG_015988.1:g.5138A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000296777.5:c.7A>G MANE Select ENSP00000296777.4:p.Ser3Gly
ENST00000296777.4:c.7A>G ENSP00000296777.4:p.Ser3Gly
NM_004291.3:c.7A>G NP_004282.1:p.Ser3Gly
NM_004291.4:c.7A>G MANE Select NP_004282.1:p.Ser3Gly