Canonical Allele Identifier: CA175095673
Gene: STAR HGNC NCBI

Linked Data

dbSNP Id: rs943946505
gnomAD v2: 8-38003416-G-A
gnomAD v3: 8-38145898-G-A
gnomAD v4: 8-38145898-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.38145898G>A , CM000670.2:g.38145898G>A GRCh38
NC_000008.10:g.38003416G>A , CM000670.1:g.38003416G>A GRCh37
NC_000008.9:g.38122573G>A NCBI36
NG_011827.1:g.10185C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000276449.9:c.650+65C>T MANE Select ENSP00000276449.3:n.650+65C>T
ENST00000276449.8:c.650+65C>T ENSP00000276449.3:n.650+65C>T
ENST00000520114.1:n.1202C>T
ENST00000522050.1:c.586+65C>T
NM_000349.2:c.650+65C>T NP_000340.2:n.650+65C>T
XM_006716392.1:c.650+65C>T XP_006716455.1:n.650+65C>T
NM_000349.3:c.650+65C>T MANE Select NP_000340.2:n.650+65C>T