Canonical Allele Identifier: CA359389951

Gene: SLC45A2

Linked Data

• gnomAD v4: 5-33951632-A-G
• MyVariant Identifiers: chr5:g.33951737A>G (hg19) ; chr5:g.33951632A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33951632A>G , CM000667.2:g.33951632A>G	GRCh38
NC_000005.9:g.33951737A>G , CM000667.1:g.33951737A>G	GRCh37
NC_000005.8:g.33987494A>G	NCBI36
NG_011691.2:g.38044T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296589.9:c.1078T>C MANE Select	ENSP00000296589.4:p.Phe360Leu
ENST00000296589.8:c.1078T>C	ENSP00000296589.4:p.Phe360Leu
ENST00000382102.7:c.1078T>C	ENSP00000371534.3:p.Phe360Leu
ENST00000509381.1:c.*20T>C	ENSP00000421100.1:n.*20T>C
ENST00000510600.1:c.553T>C	ENSP00000424010.1:p.Phe185Leu
NM_001012509.3:c.1078T>C	NP_001012527.1:p.Phe360Leu
NM_001297417.2:c.*20T>C	NP_001284346.2:n.*20T>C
NM_016180.4:c.1078T>C	NP_057264.3:p.Phe360Leu
XM_011514051.1:c.676T>C	XP_011512353.1:p.Phe226Leu
XR_925620.1:n.1895T>C
NM_016180.5:c.1078T>C MANE Select	NP_057264.4:p.Phe360Leu
NM_001012509.4:c.1078T>C	NP_001012527.2:p.Phe360Leu
NM_001297417.3:c.*20T>C	NP_001284346.2:n.*20T>C
NM_001297417.4:c.*20T>C	NP_001284346.2:n.*20T>C