Canonical Allele Identifier: CA3298290
Gene: CARTPT HGNC NCBI

Linked Data

dbSNP Id: rs373471408
ExAC: 5:71015314 T / A
gnomAD v2: 5-71015314-T-A
gnomAD v3: 5-71719487-T-A
gnomAD v4: 5-71719487-T-A
MyVariant Identifiers: chr5:g.71015314T>A (hg19) chr5:g.71719487T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.71719487T>A , CM000667.2:g.71719487T>A GRCh38
NC_000005.9:g.71015314T>A , CM000667.1:g.71015314T>A GRCh37
NC_000005.8:g.71051070T>A NCBI36
NG_015988.1:g.5325T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000296777.5:c.159+35T>A MANE Select ENSP00000296777.4:n.159+35T>A
ENST00000296777.4:c.159+35T>A ENSP00000296777.4:n.159+35T>A
NM_004291.3:c.159+35T>A NP_004282.1:n.159+35T>A
NM_004291.4:c.159+35T>A MANE Select NP_004282.1:n.159+35T>A
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