Canonical Allele Identifier: CA340839895

Gene: CTH

Linked Data

• MyVariant Identifiers: chr1:g.70904810G>C (hg19) ; chr1:g.70439127G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.70439127G>C , CM000663.2:g.70439127G>C	GRCh38
NC_000001.10:g.70904810G>C , CM000663.1:g.70904810G>C	GRCh37
NC_000001.9:g.70677398G>C	NCBI36
NG_008041.1:g.32856G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000370938.8:c.1218G>C MANE Select	ENSP00000359976.3:p.Ter406Tyr
ENST00000346806.2:c.1086G>C	ENSP00000311554.2:p.Ter362Tyr
ENST00000370938.7:c.1218G>C	ENSP00000359976.3:p.Ter406Tyr
ENST00000411986.6:c.1122G>C	ENSP00000413407.2:p.Ter374Tyr
ENST00000482383.1:n.493G>C
NM_001190463.1:c.1122G>C	NP_001177392.1:p.Ter374Tyr
NM_001902.5:c.1218G>C	NP_001893.2:p.Ter406Tyr
NM_153742.4:c.1086G>C	NP_714964.2:p.Ter362Tyr
XM_005270509.2:c.891G>C	XP_005270566.1:p.Ter297Tyr
XM_011540787.1:c.648G>C	XP_011539089.1:p.Ter216Tyr
XM_005270509.3:c.891G>C	XP_005270566.1:p.Ter297Tyr
XM_017000416.2:c.648G>C	XP_016855905.1:p.Ter216Tyr
NM_001902.6:c.1218G>C MANE Select	NP_001893.2:p.Ter406Tyr
NM_001190463.2:c.1122G>C	NP_001177392.1:p.Ter374Tyr
NM_153742.5:c.1086G>C	NP_714964.2:p.Ter362Tyr