Canonical Allele Identifier: CA359397378

Gene: SLC45A2

Linked Data

• dbSNP Id: rs1390251343
• gnomAD v3: 5-33984268-T-G
• gnomAD v4: 5-33984268-T-G
• MyVariant Identifiers: chr5:g.33984373T>G (hg19) ; chr5:g.33984268T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33984268T>G , CM000667.2:g.33984268T>G	GRCh38
NC_000005.9:g.33984373T>G , CM000667.1:g.33984373T>G	GRCh37
NC_000005.8:g.34020130T>G	NCBI36
NG_011691.2:g.5408A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296589.9:c.316A>C MANE Select	ENSP00000296589.4:p.Ile106Leu
ENST00000296589.8:c.316A>C	ENSP00000296589.4:p.Ile106Leu
ENST00000382102.7:c.316A>C	ENSP00000371534.3:p.Ile106Leu
ENST00000505056.1:n.295A>C
ENST00000509381.1:c.316A>C	ENSP00000421100.1:p.Ile106Leu
NM_001012509.3:c.316A>C	NP_001012527.1:p.Ile106Leu
NM_001297417.2:c.316A>C	NP_001284346.2:p.Ile106Leu
NM_016180.4:c.316A>C	NP_057264.3:p.Ile106Leu
XM_011514052.1:c.316A>C	XP_011512354.1:p.Ile106Leu
XR_925620.1:n.877A>C
NM_016180.5:c.316A>C MANE Select	NP_057264.4:p.Ile106Leu
NM_001012509.4:c.316A>C	NP_001012527.2:p.Ile106Leu
NM_001297417.3:c.316A>C	NP_001284346.2:p.Ile106Leu
NM_001297417.4:c.316A>C	NP_001284346.2:p.Ile106Leu