Canonical Allele Identifier: CA24503972
Gene: CTH HGNC NCBI

Linked Data

dbSNP Id: rs672203
gnomAD v2: 1-70887099-A-G
gnomAD v3: 1-70421416-A-G
gnomAD v4: 1-70421416-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.70421416A>G , CM000663.2:g.70421416A>G GRCh38
NC_000001.10:g.70887099A>G , CM000663.1:g.70887099A>G GRCh37
NC_000001.9:g.70659687A>G NCBI36
NG_008041.1:g.15145A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000370938.8:c.347-150A>G MANE Select ENSP00000359976.3:n.347-150A>G
ENST00000346806.2:c.347-150A>G ENSP00000311554.2:n.347-150A>G
ENST00000370938.7:c.347-150A>G ENSP00000359976.3:n.347-150A>G
ENST00000411986.6:c.251-150A>G ENSP00000413407.2:n.251-150A>G
ENST00000464926.1:n.395-150A>G
NM_001190463.1:c.251-150A>G NP_001177392.1:n.251-150A>G
NM_001902.5:c.347-150A>G NP_001893.2:n.347-150A>G
NM_153742.4:c.347-150A>G NP_714964.2:n.347-150A>G
XM_005270509.2:c.20-150A>G XP_005270566.1:n.20-150A>G
XM_005270509.3:c.20-150A>G XP_005270566.1:n.20-150A>G
NM_001902.6:c.347-150A>G MANE Select NP_001893.2:n.347-150A>G
NM_001190463.2:c.251-150A>G NP_001177392.1:n.251-150A>G
NM_153742.5:c.347-150A>G NP_714964.2:n.347-150A>G