Canonical Allele Identifier: CA4715242
Gene: STAR HGNC NCBI

Linked Data

dbSNP Id: rs201056588
ExAC: 8:38003788 G / A
gnomAD v2: 8-38003788-G-A
gnomAD v3: 8-38146270-G-A
gnomAD v4: 8-38146270-G-A
MyVariant Identifiers: chr8:g.38003788G>A (hg19) chr8:g.38146270G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.38146270G>A , CM000670.2:g.38146270G>A GRCh38
NC_000008.10:g.38003788G>A , CM000670.1:g.38003788G>A GRCh37
NC_000008.9:g.38122945G>A NCBI36
NG_011827.1:g.9813C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000276449.9:c.465+19C>T MANE Select ENSP00000276449.3:n.465+19C>T
ENST00000276449.8:c.465+19C>T ENSP00000276449.3:n.465+19C>T
ENST00000520114.1:n.952+19C>T
ENST00000522050.1:c.401+19C>T
NM_000349.2:c.465+19C>T NP_000340.2:n.465+19C>T
XM_006716392.1:c.465+19C>T XP_006716455.1:n.465+19C>T
NM_000349.3:c.465+19C>T MANE Select NP_000340.2:n.465+19C>T
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