Canonical Allele Identifier: CA12024141
Gene: SLC45A2 HGNC NCBI

Linked Data

dbSNP Id: rs35414
gnomAD v2: 5-33969628-T-C
gnomAD v3: 5-33969523-T-C
gnomAD v4: 5-33969523-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.33969523T>C , CM000667.2:g.33969523T>C GRCh38
NC_000005.9:g.33969628T>C , CM000667.1:g.33969628T>C GRCh37
NC_000005.8:g.34005385T>C NCBI36
NG_011691.2:g.20153A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000296589.9:c.563-5507A>G MANE Select ENSP00000296589.4:n.563-5507A>G
ENST00000296589.8:c.563-5507A>G ENSP00000296589.4:n.563-5507A>G
ENST00000382102.7:c.563-5507A>G ENSP00000371534.3:n.563-5507A>G
ENST00000505056.1:n.365-5507A>G
ENST00000509381.1:c.562+12713A>G ENSP00000421100.1:n.562+12713A>G
ENST00000510600.1:c.38-5507A>G ENSP00000424010.1:n.38-5507A>G
NM_001012509.3:c.563-5507A>G NP_001012527.1:n.563-5507A>G
NM_001297417.2:c.562+12713A>G NP_001284346.2:n.562+12713A>G
NM_016180.4:c.563-5507A>G NP_057264.3:n.563-5507A>G
XM_011514051.1:c.161-5507A>G XP_011512353.1:n.161-5507A>G
XM_011514052.1:c.563-5507A>G XP_011512354.1:n.563-5507A>G
XR_925620.1:n.1380-5507A>G
NM_016180.5:c.563-5507A>G MANE Select NP_057264.4:n.563-5507A>G
NM_001012509.4:c.563-5507A>G NP_001012527.2:n.563-5507A>G
NM_001297417.3:c.562+12713A>G NP_001284346.2:n.562+12713A>G
NM_001297417.4:c.562+12713A>G NP_001284346.2:n.562+12713A>G