Canonical Allele Identifier: CA88213096

Gene: SPATA16

Linked Data

• dbSNP Id: rs952200601
• gnomAD v2: 3-172737206-A-G
• gnomAD v3: 3-173019416-A-G
• gnomAD v4: 3-173019416-A-G
• MyVariant Identifiers: chr3:g.172737206A>G (hg19) ; chr3:g.173019416A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.173019416A>G , CM000665.2:g.173019416A>G	GRCh38
NC_000003.11:g.172737206A>G , CM000665.1:g.172737206A>G	GRCh37
NC_000003.10:g.174219900A>G	NCBI36
NG_021422.1:g.126853T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000351008.4:c.848+70T>C MANE Select	ENSP00000341765.3:n.848+70T>C
ENST00000351008.3:c.848+70T>C	ENSP00000341765.3:n.848+70T>C
NM_031955.5:c.848+70T>C	NP_114161.3:n.848+70T>C
XM_006713778.2:c.848+70T>C	XP_006713841.1:n.848+70T>C
XM_011513222.1:c.848+70T>C	XP_011511524.1:n.848+70T>C
XM_006713778.3:c.848+70T>C	XP_006713841.1:n.848+70T>C
XM_017007308.2:c.848+70T>C	XP_016862797.1:n.848+70T>C
NM_031955.6:c.848+70T>C MANE Select	NP_114161.3:n.848+70T>C