Canonical Allele Identifier: CA338567935
Gene: CTRC HGNC NCBI

Linked Data

dbSNP Id: rs111372278
gnomAD v2: 1-15772215-G-T
gnomAD v3: 1-15445720-G-T
gnomAD v4: 1-15445720-G-T
MyVariant Identifiers: chr1:g.15772215G>T (hg19) chr1:g.15445720G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.15445720G>T , CM000663.2:g.15445720G>T GRCh38
NC_000001.10:g.15772215G>T , CM000663.1:g.15772215G>T GRCh37
NC_000001.9:g.15644802G>T NCBI36
NG_009253.1:g.12278G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000375949.5:c.763G>T MANE Select ENSP00000365116.4:p.Val255Leu
ENST00000375943.6:c.*217G>T ENSP00000365110.2:n.*217G>T
ENST00000375949.4:c.763G>T ENSP00000365116.4:p.Val255Leu
ENST00000483406.1:n.527G>T
NM_007272.2:c.763G>T NP_009203.2:p.Val255Leu
XM_011540550.1:c.617G>T XP_011538852.1:p.Gly206Val
NM_007272.3:c.763G>T MANE Select NP_009203.2:p.Val255Leu
Search 100 bp 5'
Search 100 bp 3'