Canonical Allele Identifier: CA445021245
Gene: CARTPT HGNC NCBI

Linked Data

dbSNP Id: rs1561185773
gnomAD v2: 5-71015156-G-A
gnomAD v4: 5-71719329-G-A
MyVariant Identifiers: chr5:g.71015156G>A (hg19) chr5:g.71015156_71015159delinsAGGC (hg19) chr5:g.71719329_71719332delinsAGGC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.71719329G>A , CM000667.2:g.71719329G>A GRCh38
NC_000005.9:g.71015156G>A , CM000667.1:g.71015156G>A GRCh37
NC_000005.8:g.71050912G>A NCBI36
NG_015988.1:g.5167G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000296777.5:c.36G>A MANE Select ENSP00000296777.4:p.Leu12=
ENST00000296777.4:c.36G>A ENSP00000296777.4:p.Leu12=
NM_004291.3:c.36G>A NP_004282.1:p.Leu12=
NM_004291.4:c.36G>A MANE Select NP_004282.1:p.Leu12=
Search 100 bp 5'
Search 100 bp 3'