Canonical Allele Identifier: CA86713661

Gene: RSRC1

Linked Data

• dbSNP Id: rs2362965
• gnomAD v2: 3-158109379-T-A
• gnomAD v3: 3-158391590-T-A
• gnomAD v4: 3-158391590-T-A
• MyVariant Identifiers: chr3:g.158109379T>A (hg19) ; chr3:g.158391590T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.158391590T>A , CM000665.2:g.158391590T>A	GRCh38
NC_000003.11:g.158109379T>A , CM000665.1:g.158109379T>A	GRCh37
NC_000003.10:g.159592073T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000476899.6:c.583+36682T>A	ENSP00000419394.2:n.583+36682T>A
ENST00000482822.3:c.583+36682T>A	ENSP00000420464.3:n.583+36682T>A
ENST00000682164.1:c.583+36682T>A	ENSP00000508394.1:n.583+36682T>A
ENST00000682221.1:c.*109+36682T>A	ENSP00000507750.1:n.*109+36682T>A
ENST00000682500.1:c.546+36682T>A	ENSP00000507161.1:n.546+36682T>A
ENST00000683137.1:c.583+36682T>A	ENSP00000507909.1:n.583+36682T>A
ENST00000683516.1:n.922+36682T>A
ENST00000683733.1:n.402+36682T>A
ENST00000683831.1:n.736+36682T>A
ENST00000683899.1:c.583+36682T>A	ENSP00000507514.1:n.583+36682T>A
ENST00000684353.1:n.148+36682T>A
ENST00000684604.1:c.457+36682T>A	ENSP00000507438.1:n.457+36682T>A
ENST00000684683.1:n.708+36682T>A
ENST00000611884.5:c.583+36682T>A MANE Select	ENSP00000481697.1:n.583+36682T>A
ENST00000295930.7:c.583+36682T>A	ENSP00000295930.3:n.583+36682T>A
ENST00000312179.10:c.409+36682T>A	ENSP00000308671.6:n.409+36682T>A
ENST00000464171.5:c.409+36682T>A	ENSP00000419794.1:n.409+36682T>A
ENST00000471911.5:n.467+36682T>A
ENST00000471994.5:c.583+36682T>A	ENSP00000417302.1:n.583+36682T>A
ENST00000475278.6:c.583+36682T>A	ENSP00000417816.2:n.583+36682T>A
ENST00000480119.5:c.*60+36682T>A	ENSP00000420018.1:n.*60+36682T>A
ENST00000480820.5:c.583+36682T>A	ENSP00000420150.1:n.583+36682T>A
ENST00000482822.2:c.263+36682T>A
ENST00000611884.4:c.583+36682T>A	ENSP00000481697.1:n.583+36682T>A
NM_001271834.1:c.409+36682T>A	NP_001258763.1:n.409+36682T>A
NM_001271838.1:c.583+36682T>A	NP_001258767.1:n.583+36682T>A
NM_016625.3:c.583+36682T>A	NP_057709.2:n.583+36682T>A
XM_011512876.1:c.409+36682T>A	XP_011511178.1:n.409+36682T>A
XM_024453560.1:c.583+36682T>A	XP_024309328.1:n.583+36682T>A
XM_024453562.1:c.409+36682T>A	XP_024309330.1:n.409+36682T>A
XM_024453563.1:c.409+36682T>A	XP_024309331.1:n.409+36682T>A
XR_002959540.1:n.822+36682T>A
NM_001271838.2:c.583+36682T>A MANE Select	NP_001258767.1:n.583+36682T>A
NM_001271834.2:c.409+36682T>A	NP_001258763.1:n.409+36682T>A
NM_016625.4:c.583+36682T>A	NP_057709.2:n.583+36682T>A