Canonical Allele Identifier: CA2663623110

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232545852C>T , CM000664.2:g.232545852C>T GRCh38
NC_000002.11:g.233410562C>T , CM000664.1:g.233410562C>T GRCh37
NC_000002.10:g.233118806C>T NCBI36
NG_012954.1:g.11126C>T
NG_012954.2:g.11161C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000408957.7:c.*2255G>A (TIGD1) MANE Select ENSP00000386186.3:n.*2255G>A
ENST00000651502.1:c.*136C>T (CHRNG) MANE Select ENSP00000498757.1:n.*136C>T
ENST00000389494.7:c.*136C>T (CHRNG) ENSP00000374145.3:n.*136C>T
NM_005199.4:c.*136C>T (CHRNG) NP_005190.4:n.*136C>T
NM_005199.5:c.*136C>T (CHRNG) MANE Select NP_005190.4:n.*136C>T
NM_145702.4:c.*2255G>A (TIGD1) MANE Select NP_663748.1:n.*2255G>A