Canonical Allele Identifier: CA359394212

Gene: SLC45A2

Linked Data

• MyVariant Identifiers: chr5:g.33964056G>C (hg19) ; chr5:g.33963951G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33963951G>C , CM000667.2:g.33963951G>C	GRCh38
NC_000005.9:g.33964056G>C , CM000667.1:g.33964056G>C	GRCh37
NC_000005.8:g.33999813G>C	NCBI36
NG_011691.2:g.25725C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296589.9:c.628C>G MANE Select	ENSP00000296589.4:p.Leu210Val
ENST00000296589.8:c.628C>G	ENSP00000296589.4:p.Leu210Val
ENST00000382102.7:c.628C>G	ENSP00000371534.3:p.Leu210Val
ENST00000505056.1:n.430C>G
ENST00000509381.1:c.563-9447C>G	ENSP00000421100.1:n.563-9447C>G
ENST00000510600.1:c.103C>G	ENSP00000424010.1:p.Leu35Val
NM_001012509.3:c.628C>G	NP_001012527.1:p.Leu210Val
NM_001297417.2:c.563-9447C>G	NP_001284346.2:n.563-9447C>G
NM_016180.4:c.628C>G	NP_057264.3:p.Leu210Val
XM_011514051.1:c.226C>G	XP_011512353.1:p.Leu76Val
XM_011514052.1:c.628C>G	XP_011512354.1:p.Leu210Val
XR_925620.1:n.1445C>G
NM_016180.5:c.628C>G MANE Select	NP_057264.4:p.Leu210Val
NM_001012509.4:c.628C>G	NP_001012527.2:p.Leu210Val
NM_001297417.3:c.563-9447C>G	NP_001284346.2:n.563-9447C>G
NM_001297417.4:c.563-9447C>G	NP_001284346.2:n.563-9447C>G