Canonical Allele Identifier: CA8990501
Gene: HMSD HGNC NCBI
COSMIC:
COSM148439 (not active)
MyVariant.info:
GRCh38 chr18:g.63953532G>A
GRCh37 chr18:g.61620766G>A
gnomAD v2:
18:61620766 G / A
gnomAD v3:
18:63953532 G / A
gnomAD v4:
chr18-63953532-G-A
Joint Max Group AF 0.38982949 (AFR)
Genomes Max Group AF 0.3836422 (AFR)
Exomes Max Group AF 0.39405481 (AFR)
dbSNP:
9945924
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.63953532G>A , CM000680.2:g.63953532G>A GRCh38
NC_000018.9:g.61620766G>A , CM000680.1:g.61620766G>A GRCh37
NC_000018.8:g.59771746G>A NCBI36
NG_027807.1:g.9179G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000408945.5:c.72+5G>A MANE Select ENSP00000386207.3:n.72+5G>A
ENST00000408945.4:c.72+5G>A ENSP00000386207.3:n.72+5G>A
ENST00000481726.1:n.45-876G>A
NM_001123366.1:c.72+5G>A NP_001116838.1:n.72+5G>A
XM_011525930.1:c.72+5G>A XP_011524232.1:n.72+5G>A
XM_011525930.2:c.72+5G>A XP_011524232.1:n.72+5G>A
XM_017025710.1:c.72+5G>A XP_016881199.1:n.72+5G>A
NM_001123366.2:c.72+5G>A MANE Select NP_001116838.1:n.72+5G>A
Search 100 bp 5'
Search 100 bp 3'