Canonical Allele Identifier: CA16224395

Gene: SLC45A2

Linked Data

• ClinVar Variation Id: 1233200
• ClinVar RCV Id: RCV001617325
• dbSNP Id: rs183671
• gnomAD v2: 5-33964210-T-G
• gnomAD v3: 5-33964105-T-G
• gnomAD v4: 5-33964105-T-G
• MyVariant Identifiers: chr5:g.33964210T>G (hg19) ; chr5:g.33964105T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33964105T>G , CM000667.2:g.33964105T>G	GRCh38
NC_000005.9:g.33964210T>G , CM000667.1:g.33964210T>G	GRCh37
NC_000005.8:g.33999967T>G	NCBI36
NG_011691.2:g.25571A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296589.9:c.563-89A>C MANE Select	ENSP00000296589.4:n.563-89A>C
ENST00000296589.8:c.563-89A>C	ENSP00000296589.4:n.563-89A>C
ENST00000382102.7:c.563-89A>C	ENSP00000371534.3:n.563-89A>C
ENST00000505056.1:n.365-89A>C
ENST00000509381.1:c.563-9601A>C	ENSP00000421100.1:n.563-9601A>C
ENST00000510600.1:c.38-89A>C	ENSP00000424010.1:n.38-89A>C
NM_001012509.3:c.563-89A>C	NP_001012527.1:n.563-89A>C
NM_001297417.2:c.563-9601A>C	NP_001284346.2:n.563-9601A>C
NM_016180.4:c.563-89A>C	NP_057264.3:n.563-89A>C
XM_011514051.1:c.161-89A>C	XP_011512353.1:n.161-89A>C
XM_011514052.1:c.563-89A>C	XP_011512354.1:n.563-89A>C
XR_925620.1:n.1380-89A>C
NM_016180.5:c.563-89A>C MANE Select	NP_057264.4:n.563-89A>C
NM_001012509.4:c.563-89A>C	NP_001012527.2:n.563-89A>C
NM_001297417.3:c.563-9601A>C	NP_001284346.2:n.563-9601A>C
NM_001297417.4:c.563-9601A>C	NP_001284346.2:n.563-9601A>C