Canonical Allele Identifier: CA360104192
Gene: CARTPT HGNC NCBI

Linked Data

gnomAD v4: 5-71719302-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.71719302C>A , CM000667.2:g.71719302C>A GRCh38
NC_000005.9:g.71015129C>A , CM000667.1:g.71015129C>A GRCh37
NC_000005.8:g.71050885C>A NCBI36
NG_015988.1:g.5140C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000296777.5:c.9C>A MANE Select ENSP00000296777.4:p.Ser3Arg
ENST00000296777.4:c.9C>A ENSP00000296777.4:p.Ser3Arg
NM_004291.3:c.9C>A NP_004282.1:p.Ser3Arg
NM_004291.4:c.9C>A MANE Select NP_004282.1:p.Ser3Arg