Canonical Allele Identifier: CA359394104

Gene: SLC45A2

Linked Data

• gnomAD v4: 5-33963925-C-G
• MyVariant Identifiers: chr5:g.33964030C>G (hg19) ; chr5:g.33963925C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33963925C>G , CM000667.2:g.33963925C>G	GRCh38
NC_000005.9:g.33964030C>G , CM000667.1:g.33964030C>G	GRCh37
NC_000005.8:g.33999787C>G	NCBI36
NG_011691.2:g.25751G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296589.9:c.654G>C MANE Select	ENSP00000296589.4:p.Met218Ile
ENST00000296589.8:c.654G>C	ENSP00000296589.4:p.Met218Ile
ENST00000382102.7:c.654G>C	ENSP00000371534.3:p.Met218Ile
ENST00000505056.1:n.456G>C
ENST00000509381.1:c.563-9421G>C	ENSP00000421100.1:n.563-9421G>C
ENST00000510600.1:c.129G>C	ENSP00000424010.1:p.Met43Ile
NM_001012509.3:c.654G>C	NP_001012527.1:p.Met218Ile
NM_001297417.2:c.563-9421G>C	NP_001284346.2:n.563-9421G>C
NM_016180.4:c.654G>C	NP_057264.3:p.Met218Ile
XM_011514051.1:c.252G>C	XP_011512353.1:p.Met84Ile
XM_011514052.1:c.654G>C	XP_011512354.1:p.Met218Ile
XR_925620.1:n.1471G>C
NM_016180.5:c.654G>C MANE Select	NP_057264.4:p.Met218Ile
NM_001012509.4:c.654G>C	NP_001012527.2:p.Met218Ile
NM_001297417.3:c.563-9421G>C	NP_001284346.2:n.563-9421G>C
NM_001297417.4:c.563-9421G>C	NP_001284346.2:n.563-9421G>C