Canonical Allele Identifier: CA1335319066

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232545748C= , CM000664.2:g.232545748C= GRCh38
NC_000002.11:g.233410458C= , CM000664.1:g.233410458C= GRCh37
NC_000002.10:g.233118702C= NCBI36
NG_012954.1:g.11022C=
NG_012954.2:g.11057C=

Transcript Alleles

HGVS Amino-acid change
ENST00000408957.7:c.*2359G= (TIGD1) MANE Select ENSP00000386186.3:n.*2359G=
ENST00000651502.1:c.*32C= (CHRNG) MANE Select ENSP00000498757.1:n.*32C=
ENST00000389494.7:c.*32C= (CHRNG) ENSP00000374145.3:n.*32C=
NM_005199.4:c.*32C= (CHRNG) NP_005190.4:n.*32C=
NM_005199.5:c.*32C= (CHRNG) MANE Select NP_005190.4:n.*32C=
NM_145702.4:c.*2359G= (TIGD1) MANE Select NP_663748.1:n.*2359G=