Canonical Allele Identifier: CA360104394

Gene: CARTPT

Linked Data

• dbSNP Id: rs1442724067
• gnomAD v2: 5-71015235-G-C
• gnomAD v4: 5-71719408-G-C
• MyVariant Identifiers: chr5:g.71015235G>C (hg19) ; chr5:g.71719408G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.71719408G>C , CM000667.2:g.71719408G>C	GRCh38
NC_000005.9:g.71015235G>C , CM000667.1:g.71015235G>C	GRCh37
NC_000005.8:g.71050991G>C	NCBI36
NG_015988.1:g.5246G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296777.5:c.115G>C MANE Select	ENSP00000296777.4:p.Asp39His
ENST00000296777.4:c.115G>C	ENSP00000296777.4:p.Asp39His
NM_004291.3:c.115G>C	NP_004282.1:p.Asp39His
NM_004291.4:c.115G>C MANE Select	NP_004282.1:p.Asp39His