Canonical Allele Identifier: CA359394381

Gene: SLC45A2

Linked Data

• MyVariant Identifiers: chr5:g.33964106A>G (hg19) ; chr5:g.33964001A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33964001A>G , CM000667.2:g.33964001A>G	GRCh38
NC_000005.9:g.33964106A>G , CM000667.1:g.33964106A>G	GRCh37
NC_000005.8:g.33999863A>G	NCBI36
NG_011691.2:g.25675T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000296589.9:c.578T>C MANE Select	ENSP00000296589.4:p.Leu193Pro
ENST00000296589.8:c.578T>C	ENSP00000296589.4:p.Leu193Pro
ENST00000382102.7:c.578T>C	ENSP00000371534.3:p.Leu193Pro
ENST00000505056.1:n.380T>C
ENST00000509381.1:c.563-9497T>C	ENSP00000421100.1:n.563-9497T>C
ENST00000510600.1:c.53T>C	ENSP00000424010.1:p.Leu18Pro
NM_001012509.3:c.578T>C	NP_001012527.1:p.Leu193Pro
NM_001297417.2:c.563-9497T>C	NP_001284346.2:n.563-9497T>C
NM_016180.4:c.578T>C	NP_057264.3:p.Leu193Pro
XM_011514051.1:c.176T>C	XP_011512353.1:p.Leu59Pro
XM_011514052.1:c.578T>C	XP_011512354.1:p.Leu193Pro
XR_925620.1:n.1395T>C
NM_016180.5:c.578T>C MANE Select	NP_057264.4:p.Leu193Pro
NM_001012509.4:c.578T>C	NP_001012527.2:p.Leu193Pro
NM_001297417.3:c.563-9497T>C	NP_001284346.2:n.563-9497T>C
NM_001297417.4:c.563-9497T>C	NP_001284346.2:n.563-9497T>C