Canonical Allele Identifier: CA6059645
Community Standard Title: NM_004254.4(SLC22A8):c.1328A>C (p.Gln443Pro)
Gene: SLC22A8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.62993625T>G , CM000673.2:g.62993625T>G GRCh38
NC_000011.9:g.62761097T>G , CM000673.1:g.62761097T>G GRCh37
NC_000011.8:g.62517673T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_004254.4:c.1328A>C MANE Select NP_004245.2:p.Gln443Pro
ENST00000336232.7:c.1328A>C MANE Select ENSP00000337335.2:p.Gln443Pro
NM_001184732.1:c.1328A>C NP_001171661.1:p.Gln443Pro
NM_001184732.2:c.1328A>C NP_001171661.1:p.Gln443Pro
NM_001184733.1:c.1055A>C NP_001171662.1:p.Gln352Pro
NM_001184733.2:c.1055A>C NP_001171662.1:p.Gln352Pro
NM_001184736.1:c.959A>C NP_001171665.1:p.Gln320Pro
NM_001184736.2:c.959A>C NP_001171665.1:p.Gln320Pro
NM_004254.3:c.1328A>C NP_004245.2:p.Gln443Pro
ENST00000311438.12:c.1328A>C ENSP00000311463.8:p.Gln443Pro
ENST00000336232.6:c.1328A>C ENSP00000337335.2:p.Gln443Pro
ENST00000430500.6:c.1328A>C ENSP00000398548.2:p.Gln443Pro
ENST00000451262.1:n.1691A>C
ENST00000535878.5:c.959A>C ENSP00000443368.1:p.Gln320Pro
ENST00000539841.1:n.3107A>C
ENST00000545207.5:c.1055A>C ENSP00000441658.1:p.Gln352Pro
XM_011545364.1:c.959A>C XP_011543666.1:p.Gln320Pro