Allele Registry

Canonical Allele Identifier: CA11460866

Gene: SPATA16 HGNC NCBI

Linked Data - Expert Curation

COSMIC:

COSN17134239 (not active)

COSN17136939 (not active)

COSN17142892 (not active)

COSN17144604 (not active)

COSN17146444 (not active)

COSN17149103 (not active)

COSN17152918 (not active)

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr3:g.173125487T>G

GRCh37 chr3:g.172843277T>G

Linked Data - Sequence & Population

gnomAD v2:

3:172843277 T / G

gnomAD v3:

3:173125487 T / G

gnomAD v4:

chr3-173125487-T-G

Joint Max Group AF 0.37493675 (AFR)

Genomes Max Group AF 0.37493675 (AFR)

Linked Data - NCBI & NCI

dbSNP:

11720607

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.173125487T>G , CM000665.2:g.173125487T>G	GRCh38
NC_000003.11:g.172843277T>G , CM000665.1:g.172843277T>G	GRCh37
NC_000003.10:g.174325971T>G	NCBI36
NG_021422.1:g.20782A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000351008.4:c.-18-7738A>C MANE Select	ENSP00000341765.3:n.-18-7738A>C
ENST00000351008.3:c.-18-7738A>C	ENSP00000341765.3:n.-18-7738A>C
NM_031955.5:c.-18-7738A>C	NP_114161.3:n.-18-7738A>C
XM_006713778.2:c.-18-7738A>C	XP_006713841.1:n.-18-7738A>C
XM_011513222.1:c.-18-7738A>C	XP_011511524.1:n.-18-7738A>C
XR_924722.1:n.133+11135T>G
XM_006713778.3:c.-18-7738A>C	XP_006713841.1:n.-18-7738A>C
XM_017007308.2:c.-18-7738A>C	XP_016862797.1:n.-18-7738A>C
XR_001741021.1:n.65+11135T>G
NM_031955.6:c.-18-7738A>C MANE Select	NP_114161.3:n.-18-7738A>C

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