Canonical Allele Identifier: CA1077369240
Gene: CARTPT HGNC NCBI

Linked Data

dbSNP Id: rs1748669237
gnomAD v3: 5-71719773-G-C
gnomAD v4: 5-71719773-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.71719773G>C , CM000667.2:g.71719773G>C GRCh38
NC_000005.9:g.71015600G>C , CM000667.1:g.71015600G>C GRCh37
NC_000005.8:g.71051356G>C NCBI36
NG_015988.1:g.5611G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000296777.5:c.160-107G>C MANE Select ENSP00000296777.4:n.160-107G>C
ENST00000296777.4:c.160-107G>C ENSP00000296777.4:n.160-107G>C
ENST00000513096.1:n.195G>C
NM_004291.3:c.160-107G>C NP_004282.1:n.160-107G>C
NM_004291.4:c.160-107G>C MANE Select NP_004282.1:n.160-107G>C
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