Canonical Allele Identifier: CA340839866

Gene: CTH

Linked Data

• gnomAD v4: 1-70439119-C-T
• MyVariant Identifiers: chr1:g.70904802C>T (hg19) ; chr1:g.70439119C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.70439119C>T , CM000663.2:g.70439119C>T	GRCh38
NC_000001.10:g.70904802C>T , CM000663.1:g.70904802C>T	GRCh37
NC_000001.9:g.70677390C>T	NCBI36
NG_008041.1:g.32848C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000370938.8:c.1210C>T MANE Select	ENSP00000359976.3:p.His404Tyr
ENST00000346806.2:c.1078C>T	ENSP00000311554.2:p.His360Tyr
ENST00000370938.7:c.1210C>T	ENSP00000359976.3:p.His404Tyr
ENST00000411986.6:c.1114C>T	ENSP00000413407.2:p.His372Tyr
ENST00000482383.1:n.485C>T
NM_001190463.1:c.1114C>T	NP_001177392.1:p.His372Tyr
NM_001902.5:c.1210C>T	NP_001893.2:p.His404Tyr
NM_153742.4:c.1078C>T	NP_714964.2:p.His360Tyr
XM_005270509.2:c.883C>T	XP_005270566.1:p.His295Tyr
XM_011540787.1:c.640C>T	XP_011539089.1:p.His214Tyr
XM_005270509.3:c.883C>T	XP_005270566.1:p.His295Tyr
XM_017000416.2:c.640C>T	XP_016855905.1:p.His214Tyr
NM_001902.6:c.1210C>T MANE Select	NP_001893.2:p.His404Tyr
NM_001190463.2:c.1114C>T	NP_001177392.1:p.His372Tyr
NM_153742.5:c.1078C>T	NP_714964.2:p.His360Tyr