Canonical Allele Identifier: CA8549554
Gene: KRT23 HGNC NCBI
COSMIC:
COSM3755482
dbSNP:
9257
gnomAD v2:
17:39084504 T / C
gnomAD v3:
17:40928252 T / C
gnomAD v4:
chr17-40928252-T-C
Joint Max Group AF 0.72013681 (EAS)
Genomes Max Group AF 0.69260898 (EAS)
Exomes Max Group AF 0.72165726 (EAS)
MyVariant.info:
GRCh38 chr17:g.40928252T>C
GRCh37 chr17:g.39084504T>C
Revel Score:
ENST00000209718 (MANE Select) 0.214
ENST00000436344 0.214
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.40928252T>C , CM000679.2:g.40928252T>C GRCh38
NC_000017.10:g.39084504T>C , CM000679.1:g.39084504T>C GRCh37
NC_000017.9:g.36338030T>C NCBI36
NG_012287.1:g.14333A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000209718.8:c.907A>G MANE Select ENSP00000209718.3:p.Thr303Ala
ENST00000209718.7:c.907A>G ENSP00000209718.3:p.Thr303Ala
ENST00000436344.7:c.496A>G ENSP00000414056.3:p.Thr166Ala
ENST00000462312.5:c.*225A>G ENSP00000462335.1:n.*225A>G
ENST00000494691.5:c.*225A>G ENSP00000464548.1:n.*225A>G
ENST00000582754.5:n.1139A>G
NM_001282433.1:c.496A>G NP_001269362.1:p.Thr166Ala
NM_015515.4:c.907A>G NP_056330.3:p.Thr303Ala
XM_005257200.3:c.496A>G XP_005257257.1:p.Thr166Ala
XM_011524595.1:c.496A>G XP_011522897.1:p.Thr166Ala
XM_005257200.5:c.496A>G XP_005257257.1:p.Thr166Ala
XM_011524595.2:c.496A>G XP_011522897.1:p.Thr166Ala
NM_001282433.2:c.496A>G NP_001269362.1:p.Thr166Ala
NM_015515.5:c.907A>G MANE Select NP_056330.3:p.Thr303Ala
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