Canonical Allele Identifier: CA560375485
Gene: CARTPT HGNC NCBI

Linked Data

dbSNP Id: rs1450697924
gnomAD v2: 5-71015086-C-G
gnomAD v4: 5-71719259-C-G
MyVariant Identifiers: chr5:g.71015086C>G (hg19) chr5:g.71719259C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.71719259C>G , CM000667.2:g.71719259C>G GRCh38
NC_000005.9:g.71015086C>G , CM000667.1:g.71015086C>G GRCh37
NC_000005.8:g.71050842C>G NCBI36
NG_015988.1:g.5097C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000296777.4:c.-35C>G ENSP00000296777.4:n.-35C>G
NM_004291.3:c.-35C>G NP_004282.1:n.-35C>G
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