Canonical Allele Identifier: CA3298270

Gene: CARTPT

Linked Data

• dbSNP Id: rs748320595
• ExAC: 5:71015195 C / T
• gnomAD v2: 5-71015195-C-T
• gnomAD v4: 5-71719368-C-T
• COSMIC: COSM3410390
• MyVariant Identifiers: chr5:g.71015195C>T (hg19) ; chr5:g.71719368C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.71719368C>T , CM000667.2:g.71719368C>T	GRCh38
NC_000005.9:g.71015195C>T , CM000667.1:g.71015195C>T	GRCh37
NC_000005.8:g.71050951C>T	NCBI36
NG_015988.1:g.5206C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296777.5:c.75C>T MANE Select	ENSP00000296777.4:p.Thr25=
ENST00000296777.4:c.75C>T	ENSP00000296777.4:p.Thr25=
NM_004291.3:c.75C>T	NP_004282.1:p.Thr25=
NM_004291.4:c.75C>T MANE Select	NP_004282.1:p.Thr25=