Canonical Allele Identifier: CA8968757

Gene: STARD6

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.54331790C>T , CM000680.2:g.54331790C>T	GRCh38
NC_000018.9:g.51858160C>T , CM000680.1:g.51858160C>T	GRCh37
NC_000018.8:g.50112158C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_139171.2:c.337G>A MANE Select	NP_631910.1:p.Asp113Asn
ENST00000307844.4:c.337G>A MANE Select	ENSP00000310814.3:p.Asp113Asn
NM_001371101.1:c.160G>A	NP_001358030.1:p.Asp54Asn
NM_001371102.1:c.160G>A	NP_001358031.1:p.Asp54Asn
NM_001394379.1:c.370G>A	NP_001381308.1:p.Asp124Asn
NM_139171.1:c.337G>A	NP_631910.1:p.Asp113Asn
NR_138549.1:n.621G>A
NR_138549.2:n.776G>A
ENST00000307844.3:c.337G>A	ENSP00000310814.3:p.Asp113Asn
ENST00000581310.5:c.337G>A	ENSP00000462349.1:p.Asp113Asn
ENST00000686109.1:c.370G>A	ENSP00000510350.1:p.Asp124Asn
ENST00000689888.1:c.*393G>A	ENSP00000510618.1:n.*393G>A
XM_011525820.1:c.91G>A	XP_011524122.1:p.Asp31Asn
XM_011525821.1:c.337G>A	XP_011524123.1:p.Asp113Asn
XM_011525821.2:c.337G>A	XP_011524123.1:p.Asp113Asn
XM_017025552.2:c.160G>A	XP_016881041.1:p.Asp54Asn
XM_017025553.1:c.160G>A	XP_016881042.1:p.Asp54Asn