Canonical Allele Identifier: CA445021251
Gene: CARTPT HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.71015162C>G (hg19)

Genomic Alleles

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

Transcript Alleles

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