Canonical Allele Identifier: CA286900016

Gene: SRR

Linked Data

• dbSNP Id: rs1055201077
• gnomAD v2: 17-2216417-T-C
• gnomAD v3: 17-2313123-T-C
• gnomAD v4: 17-2313123-T-C
• MyVariant Identifiers: chr17:g.2216417T>C (hg19) ; chr17:g.2313123T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.2313123T>C , CM000679.2:g.2313123T>C	GRCh38
NC_000017.10:g.2216417T>C , CM000679.1:g.2216417T>C	GRCh37
NC_000017.9:g.2163167T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344595.10:c.-4-2434T>C MANE Select	ENSP00000339435.5:n.-4-2434T>C
ENST00000344595.9:c.-4-2434T>C	ENSP00000339435.5:n.-4-2434T>C
ENST00000570662.2:c.-4-2434T>C	ENSP00000460581.2:n.-4-2434T>C
ENST00000572709.5:c.-4-2434T>C	ENSP00000458814.1:n.-4-2434T>C
ENST00000574987.1:c.-279-4747T>C	ENSP00000461343.1:n.-279-4747T>C
ENST00000575840.5:c.-4-2434T>C	ENSP00000461589.1:n.-4-2434T>C
ENST00000576620.5:c.-4-2434T>C	ENSP00000461125.1:n.-4-2434T>C
ENST00000576848.1:c.-85+9106T>C	ENSP00000476682.1:n.-85+9106T>C
NM_001304803.1:c.-279-4747T>C	NP_001291732.1:n.-279-4747T>C
NM_021947.2:c.-4-2434T>C	NP_068766.1:n.-4-2434T>C
XM_006721565.2:c.-4-2434T>C	XP_006721628.1:n.-4-2434T>C
XM_006721566.2:c.-4-2434T>C	XP_006721629.1:n.-4-2434T>C
XM_011523974.1:c.-4-2434T>C	XP_011522276.1:n.-4-2434T>C
XM_011523975.1:c.-4-2434T>C	XP_011522277.1:n.-4-2434T>C
XM_006721565.3:c.-4-2434T>C	XP_006721628.1:n.-4-2434T>C
XM_006721566.3:c.-4-2434T>C	XP_006721629.1:n.-4-2434T>C
XM_011523974.3:c.-4-2434T>C	XP_011522276.1:n.-4-2434T>C
NM_021947.3:c.-4-2434T>C MANE Select	NP_068766.1:n.-4-2434T>C