Canonical Allele Identifier: CA88219502

Gene: SPATA16

Linked Data

• dbSNP Id: rs137947378
• gnomAD v2: 3-172798901-C-A
• gnomAD v3: 3-173081111-C-A
• gnomAD v4: 3-173081111-C-A
• MyVariant Identifiers: chr3:g.172798901C>A (hg19) ; chr3:g.173081111C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.173081111C>A , CM000665.2:g.173081111C>A	GRCh38
NC_000003.11:g.172798901C>A , CM000665.1:g.172798901C>A	GRCh37
NC_000003.10:g.174281595C>A	NCBI36
NG_021422.1:g.65158G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000351008.4:c.613-32017G>T MANE Select	ENSP00000341765.3:n.613-32017G>T
ENST00000351008.3:c.613-32017G>T	ENSP00000341765.3:n.613-32017G>T
NM_031955.5:c.613-32017G>T	NP_114161.3:n.613-32017G>T
XM_006713778.2:c.613-32017G>T	XP_006713841.1:n.613-32017G>T
XM_011513222.1:c.613-32017G>T	XP_011511524.1:n.613-32017G>T
XM_006713778.3:c.613-32017G>T	XP_006713841.1:n.613-32017G>T
XM_017007308.2:c.613-32017G>T	XP_016862797.1:n.613-32017G>T
NM_031955.6:c.613-32017G>T MANE Select	NP_114161.3:n.613-32017G>T