Canonical Allele Identifier: CA14415196

Gene: SRR

Identifiers and link-outs to other resources

• dbSNP Id: rs391300
• gnomAD: 17:2216258 T / C
• MyVariant Identifiers: chr17:g.2216258T>C (hg19) ; chr17:g.2312964T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.2312964T>C , CM000679.2:g.2312964T>C	GRCh38
NC_000017.10:g.2216258T>C , CM000679.1:g.2216258T>C	GRCh37
NC_000017.9:g.2163008T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
NM_001304803.1:c.-279-4906T>C VV	NP_001291732.1:p.=
NM_021947.2:c.-4-2593T>C VV	NP_068766.1:p.=
XM_006721565.2:c.-4-2593T>C	XP_006721628.1:p.=
XM_006721566.2:c.-4-2593T>C	XP_006721629.1:p.=
XM_011523974.1:c.-4-2593T>C	XP_011522276.1:p.=
XM_011523975.1:c.-4-2593T>C	XP_011522277.1:p.=
XM_006721565.3:c.-4-2593T>C	XP_006721628.1:p.=
XM_006721566.3:c.-4-2593T>C	XP_006721629.1:p.=
XM_011523974.3:c.-4-2593T>C	XP_011522276.1:p.=
NM_021947.3:c.-4-2593T>C VV MANE Preferred	NP_068766.1:p.=
ENST00000344595.9:c.-4-2593T>C	ENSP00000339435.5:p.=
ENST00000570662.2:c.-4-2593T>C	ENSP00000460581.2:p.=
ENST00000572709.5:c.-4-2593T>C	ENSP00000458814.1:p.=
ENST00000574987.1:c.-279-4906T>C	ENSP00000461343.1:p.=
ENST00000575840.5:c.-4-2593T>C	ENSP00000461589.1:p.=
ENST00000576620.5:c.-4-2593T>C	ENSP00000461125.1:p.=
ENST00000576848.1:c.-85+8947T>C	ENSP00000476682.1:p.=