Canonical Allele Identifier: CA11694735
Gene: HPGDS HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.94303661T>G
GRCh37 chr4:g.95224812T>G
gnomAD v2:
4:95224812 T / G
gnomAD v3:
4:94303661 T / G
gnomAD v4:
chr4-94303661-T-G
Joint Max Group AF 0.69868313 (EAS)
Genomes Max Group AF 0.69880962 (EAS)
Exomes Max Group AF 0.2787758 (NFE)
dbSNP:
17021463
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.94303661T>G , CM000666.2:g.94303661T>G GRCh38
NC_000004.11:g.95224812T>G , CM000666.1:g.95224812T>G GRCh37
NC_000004.10:g.95443835T>G NCBI36
NG_032150.1:g.44216A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000295256.10:c.337-1417A>C MANE Select ENSP00000295256.5:n.337-1417A>C
ENST00000295256.9:c.337-1417A>C ENSP00000295256.5:n.337-1417A>C
NM_014485.2:c.337-1417A>C NP_055300.1:n.337-1417A>C
XM_005262932.1:c.244-1417A>C XP_005262989.1:n.244-1417A>C
XM_005262932.3:c.244-1417A>C XP_005262989.1:n.244-1417A>C
NM_014485.3:c.337-1417A>C MANE Select NP_055300.1:n.337-1417A>C
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