Canonical Allele Identifier: CA443659209
Gene: SLC45A2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.33951705T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.33951600T>G , CM000667.2:g.33951600T>G GRCh38
NC_000005.9:g.33951705T>G , CM000667.1:g.33951705T>G GRCh37
NC_000005.8:g.33987462T>G NCBI36
NG_011691.2:g.38076A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000296589.9:c.1110A>C MANE Select ENSP00000296589.4:p.Gly370=
ENST00000296589.8:c.1110A>C ENSP00000296589.4:p.Gly370=
ENST00000382102.7:c.1110A>C ENSP00000371534.3:p.Gly370=
ENST00000509381.1:c.*52A>C ENSP00000421100.1:n.*52A>C
ENST00000510600.1:c.585A>C ENSP00000424010.1:p.Gly195=
NM_001012509.3:c.1110A>C NP_001012527.1:p.Gly370=
NM_001297417.2:c.*52A>C NP_001284346.2:n.*52A>C
NM_016180.4:c.1110A>C NP_057264.3:p.Gly370=
XM_011514051.1:c.708A>C XP_011512353.1:p.Gly236=
XR_925620.1:n.1927A>C
NM_016180.5:c.1110A>C MANE Select NP_057264.4:p.Gly370=
NM_001012509.4:c.1110A>C NP_001012527.2:p.Gly370=
NM_001297417.3:c.*52A>C NP_001284346.2:n.*52A>C
NM_001297417.4:c.*52A>C NP_001284346.2:n.*52A>C