Canonical Allele Identifier: CA175096450
Gene: STAR HGNC NCBI

Linked Data

dbSNP Id: rs901962302
gnomAD v2: 8-38004391-G-A
gnomAD v3: 8-38146873-G-A
gnomAD v4: 8-38146873-G-A
MyVariant Identifiers: chr8:g.38004391G>A (hg19) chr8:g.38146873G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.38146873G>A , CM000670.2:g.38146873G>A GRCh38
NC_000008.10:g.38004391G>A , CM000670.1:g.38004391G>A GRCh37
NC_000008.9:g.38123548G>A NCBI36
NG_011827.1:g.9210C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000276449.9:c.307-426C>T MANE Select ENSP00000276449.3:n.307-426C>T
ENST00000276449.8:c.307-426C>T ENSP00000276449.3:n.307-426C>T
ENST00000520114.1:n.794-426C>T
ENST00000521236.1:c.61-426C>T ENSP00000430030.1:n.61-426C>T
ENST00000522050.1:c.243-426C>T
NM_000349.2:c.307-426C>T NP_000340.2:n.307-426C>T
XM_006716392.1:c.307-426C>T XP_006716455.1:n.307-426C>T
NM_000349.3:c.307-426C>T MANE Select NP_000340.2:n.307-426C>T
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