Allele Registry

Canonical Allele Identifier: CA14489697

Gene: SCIMP HGNC NCBI
ZNF594-DT HGNC NCBI

Linked Data - Predicted Effect Evidence

MyVariant.info:

GRCh38 chr17:g.5233752G>A

GRCh37 chr17:g.5137047G>A

Linked Data - Sequence & Population

gnomAD v2:

17:5137047 G / A

gnomAD v3:

17:5233752 G / A

gnomAD v4:

chr17-5233752-G-A

Joint Max Group AF 0.22662735 (AFR)

Genomes Max Group AF 0.22662735 (AFR)

Exomes Max Group AF 0.03177562 (NFE)

Linked Data - NCBI & NCI

dbSNP:

7225151

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.5233752G>A , CM000679.2:g.5233752G>A	GRCh38
NC_000017.10:g.5137047G>A , CM000679.1:g.5137047G>A	GRCh37
NC_000017.9:g.5077771G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000574081.6:c.21+983C>T (SCIMP) MANE Select	ENSP00000461269.1:n.21+983C>T
ENST00000399600.8:c.21+983C>T (SCIMP)	ENSP00000382509.4:n.21+983C>T
ENST00000571800.5:c.21+983C>T (SCIMP)	ENSP00000459605.1:n.21+983C>T
ENST00000574081.5:c.21+983C>T (SCIMP)	ENSP00000461269.1:n.21+983C>T
ENST00000574297.1:c.21+983C>T (SCIMP)	ENSP00000459153.1:n.21+983C>T
NM_001271842.1:c.21+983C>T (SCIMP)	NP_001258771.1:n.21+983C>T
NM_207103.3:c.21+983C>T (SCIMP) MANE Select	NP_996986.1:n.21+983C>T
NR_034082.1:n.702-72G>A (ZNF594-DT)
XM_005256631.3:c.21+983C>T (SCIMP)	XP_005256688.1:n.21+983C>T
NM_001319190.1:c.21+983C>T (SCIMP)	NP_001306119.1:n.21+983C>T
NR_034082.2:n.779-72G>A (ZNF594-DT)
NR_152840.1:n.779-1362G>A (ZNF594-DT)
NM_001319190.2:c.21+983C>T (SCIMP)	NP_001306119.1:n.21+983C>T

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