Canonical Allele Identifier: CA300700521

Gene: STARD6

Linked Data

• dbSNP Id: rs10164112
• gnomAD v2: 18-51881380-T-G
• gnomAD v3: 18-54355010-T-G
• gnomAD v4: 18-54355010-T-G
• MyVariant Identifiers: chr18:g.51881380T>G (hg19) ; chr18:g.54355010T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.54355010T>G , CM000680.2:g.54355010T>G	GRCh38
NC_000018.9:g.51881380T>G , CM000680.1:g.51881380T>G	GRCh37
NC_000018.8:g.50135378T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000307844.4:c.-4-433A>C MANE Select	ENSP00000310814.3:n.-4-433A>C
ENST00000584040.2:c.-4-433A>C	ENSP00000464377.1:n.-4-433A>C
ENST00000686109.1:c.-4-433A>C	ENSP00000510350.1:n.-4-433A>C
ENST00000689888.1:c.-4-433A>C	ENSP00000510618.1:n.-4-433A>C
ENST00000577499.5:c.-4-433A>C	ENSP00000464406.1:n.-4-433A>C
ENST00000581310.5:c.-4-433A>C	ENSP00000462349.1:n.-4-433A>C
ENST00000584040.1:c.-4-433A>C	ENSP00000464377.1:n.-4-433A>C
XM_011525820.1:c.-107+1351A>C	XP_011524122.1:n.-107+1351A>C
XM_011525821.1:c.-4-433A>C	XP_011524123.1:n.-4-433A>C
XM_011525821.2:c.-4-433A>C	XP_011524123.1:n.-4-433A>C
XM_017025552.2:c.-4-433A>C	XP_016881041.1:n.-4-433A>C
XM_017025553.1:c.-4-433A>C	XP_016881042.1:n.-4-433A>C
NM_001371101.1:c.-4-433A>C	NP_001358030.1:n.-4-433A>C
NM_001371102.1:c.-4-433A>C	NP_001358031.1:n.-4-433A>C
NM_139171.2:c.-4-433A>C MANE Select	NP_631910.1:n.-4-433A>C
NM_001394379.1:c.-4-433A>C	NP_001381308.1:n.-4-433A>C
NR_138549.2:n.152-433A>C