Canonical Allele Identifier: CA560375699
Gene: CARTPT HGNC NCBI

Linked Data

dbSNP Id: rs1191990379
gnomAD v2: 5-71015426-G-A
gnomAD v3: 5-71719599-G-A
gnomAD v4: 5-71719599-G-A
MyVariant Identifiers: chr5:g.71015426G>A (hg19) chr5:g.71719599G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.71719599G>A , CM000667.2:g.71719599G>A GRCh38
NC_000005.9:g.71015426G>A , CM000667.1:g.71015426G>A GRCh37
NC_000005.8:g.71051182G>A NCBI36
NG_015988.1:g.5437G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000296777.5:c.159+147G>A MANE Select ENSP00000296777.4:n.159+147G>A
ENST00000296777.4:c.159+147G>A ENSP00000296777.4:n.159+147G>A
ENST00000513096.1:n.21G>A
NM_004291.3:c.159+147G>A NP_004282.1:n.159+147G>A
NM_004291.4:c.159+147G>A MANE Select NP_004282.1:n.159+147G>A
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