Canonical Allele Identifier: CA4715180
Gene: STAR HGNC NCBI

Linked Data

dbSNP Id: rs750796370
gnomAD v2: 8-38002870-C-G
gnomAD v4: 8-38145352-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.38145352C>G , CM000670.2:g.38145352C>G GRCh38
NC_000008.10:g.38002870C>G , CM000670.1:g.38002870C>G GRCh37
NC_000008.9:g.38122027C>G NCBI36
NG_011827.1:g.10731G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000276449.9:c.651-37G>C MANE Select ENSP00000276449.3:n.651-37G>C
ENST00000276449.8:c.651-37G>C ENSP00000276449.3:n.651-37G>C
ENST00000520114.1:n.1748G>C
ENST00000522050.1:c.586+611G>C
NM_000349.2:c.651-37G>C NP_000340.2:n.651-37G>C
XM_006716392.1:c.650+611G>C XP_006716455.1:n.650+611G>C
NM_000349.3:c.651-37G>C MANE Select NP_000340.2:n.651-37G>C