Canonical Allele Identifier: CA445021250
Gene: CARTPT HGNC NCBI

Linked Data

gnomAD v4: 5-71719335-C-A
MyVariant Identifiers: chr5:g.71015162C>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.71719335C>A , CM000667.2:g.71719335C>A GRCh38
NC_000005.9:g.71015162C>A , CM000667.1:g.71015162C>A GRCh37
NC_000005.8:g.71050918C>A NCBI36
NG_015988.1:g.5173C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000296777.5:c.42C>A MANE Select ENSP00000296777.4:p.Ala14=
ENST00000296777.4:c.42C>A ENSP00000296777.4:p.Ala14=
NM_004291.3:c.42C>A NP_004282.1:p.Ala14=
NM_004291.4:c.42C>A MANE Select NP_004282.1:p.Ala14=
Search 100 bp 5'
Search 100 bp 3'