Canonical Allele Identifier: CA338567731

Gene: CTRC

Linked Data

• gnomAD v4: 1-15445626-G-T
• MyVariant Identifiers: chr1:g.15772121G>T (hg19) ; chr1:g.15445626G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.15445626G>T , CM000663.2:g.15445626G>T	GRCh38
NC_000001.10:g.15772121G>T , CM000663.1:g.15772121G>T	GRCh37
NC_000001.9:g.15644708G>T	NCBI36
NG_009253.1:g.12184G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375949.5:c.669G>T MANE Select	ENSP00000365116.4:p.Gln223His
ENST00000375943.6:c.*123G>T	ENSP00000365110.2:n.*123G>T
ENST00000375949.4:c.669G>T	ENSP00000365116.4:p.Gln223His
ENST00000483406.1:n.433G>T
NM_007272.2:c.669G>T	NP_009203.2:p.Gln223His
XM_011540550.1:c.523G>T	XP_011538852.1:p.Val175Phe
NM_007272.3:c.669G>T MANE Select	NP_009203.2:p.Gln223His