Canonical Allele Identifier: CA370699324
Gene: STAR HGNC NCBI

Linked Data

dbSNP Id: rs1802565815
gnomAD v3: 8-38146060-C-T
gnomAD v4: 8-38146060-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.38146060C>T , CM000670.2:g.38146060C>T GRCh38
NC_000008.10:g.38003578C>T , CM000670.1:g.38003578C>T GRCh37
NC_000008.9:g.38122735C>T NCBI36
NG_011827.1:g.10023G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000276449.9:c.553G>A MANE Select ENSP00000276449.3:p.Val185Met
ENST00000276449.8:c.553G>A ENSP00000276449.3:p.Val185Met
ENST00000520114.1:n.1040G>A
ENST00000522050.1:c.489G>A
NM_000349.2:c.553G>A NP_000340.2:p.Val185Met
XM_006716392.1:c.553G>A XP_006716455.1:p.Val185Met
NM_000349.3:c.553G>A MANE Select NP_000340.2:p.Val185Met