Canonical Allele Identifier: CA340839862

Gene: CTH

Linked Data

• gnomAD v4: 1-70439117-G-C
• MyVariant Identifiers: chr1:g.70904800G>C (hg19) ; chr1:g.70439117G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.70439117G>C , CM000663.2:g.70439117G>C	GRCh38
NC_000001.10:g.70904800G>C , CM000663.1:g.70904800G>C	GRCh37
NC_000001.9:g.70677388G>C	NCBI36
NG_008041.1:g.32846G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000370938.8:c.1208G>C MANE Select	ENSP00000359976.3:p.Ser403Thr
ENST00000346806.2:c.1076G>C	ENSP00000311554.2:p.Ser359Thr
ENST00000370938.7:c.1208G>C	ENSP00000359976.3:p.Ser403Thr
ENST00000411986.6:c.1112G>C	ENSP00000413407.2:p.Ser371Thr
ENST00000482383.1:n.483G>C
NM_001190463.1:c.1112G>C	NP_001177392.1:p.Ser371Thr
NM_001902.5:c.1208G>C	NP_001893.2:p.Ser403Thr
NM_153742.4:c.1076G>C	NP_714964.2:p.Ser359Thr
XM_005270509.2:c.881G>C	XP_005270566.1:p.Ser294Thr
XM_011540787.1:c.638G>C	XP_011539089.1:p.Ser213Thr
XM_005270509.3:c.881G>C	XP_005270566.1:p.Ser294Thr
XM_017000416.2:c.638G>C	XP_016855905.1:p.Ser213Thr
NM_001902.6:c.1208G>C MANE Select	NP_001893.2:p.Ser403Thr
NM_001190463.2:c.1112G>C	NP_001177392.1:p.Ser371Thr
NM_153742.5:c.1076G>C	NP_714964.2:p.Ser359Thr