Canonical Allele Identifier: CA2538825820
Gene: SLC45A2 HGNC NCBI

Linked Data

gnomAD v4: 5-33951305-G-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.33951305G>T , CM000667.2:g.33951305G>T GRCh38
NC_000005.9:g.33951410G>T , CM000667.1:g.33951410G>T GRCh37
NC_000005.8:g.33987167G>T NCBI36
NG_011691.2:g.38371C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000296589.9:c.1156+249C>A MANE Select ENSP00000296589.4:n.1156+249C>A
ENST00000296589.8:c.1156+249C>A ENSP00000296589.4:n.1156+249C>A
ENST00000382102.7:c.1156+249C>A ENSP00000371534.3:n.1156+249C>A
ENST00000510600.1:c.631+249C>A ENSP00000424010.1:n.631+249C>A
NM_001012509.3:c.1156+249C>A NP_001012527.1:n.1156+249C>A
NM_016180.4:c.1156+249C>A NP_057264.3:n.1156+249C>A
XM_011514051.1:c.754+249C>A XP_011512353.1:n.754+249C>A
XR_925620.1:n.1973+249C>A
NM_016180.5:c.1156+249C>A MANE Select NP_057264.4:n.1156+249C>A
NM_001012509.4:c.1156+249C>A NP_001012527.2:n.1156+249C>A
Search 100 bp 5'
Search 100 bp 3'