Canonical Allele Identifier: CA2663622903

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232545761C>A , CM000664.2:g.232545761C>A GRCh38
NC_000002.11:g.233410471C>A , CM000664.1:g.233410471C>A GRCh37
NC_000002.10:g.233118715C>A NCBI36
NG_012954.1:g.11035C>A
NG_012954.2:g.11070C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000408957.7:c.*2346G>T (TIGD1) MANE Select ENSP00000386186.3:n.*2346G>T
ENST00000651502.1:c.*45C>A (CHRNG) MANE Select ENSP00000498757.1:n.*45C>A
ENST00000389494.7:c.*45C>A (CHRNG) ENSP00000374145.3:n.*45C>A
NM_005199.4:c.*45C>A (CHRNG) NP_005190.4:n.*45C>A
NM_005199.5:c.*45C>A (CHRNG) MANE Select NP_005190.4:n.*45C>A
NM_145702.4:c.*2346G>T (TIGD1) MANE Select NP_663748.1:n.*2346G>T