Canonical Allele Identifier: CA2580573359

Gene: TYR

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.[89178528C>A;89284793G>A] , CM000673.2:g.[89178528C>A;89284793G>A]	GRCh38
NC_000011.9:g.[88911696C>A;89017961G>A] , CM000673.1:g.[88911696C>A;89017961G>A]	GRCh37
NC_000011.8:g.[88551344C>A;88657609G>A]	NCBI36
NG_008748.1:g.[5657C>A;111922G>A]

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263321.6:c.[575C>A;1205G>A] MANE Select	ENSP00000263321.4:p.[Ser192Tyr;Arg402Gln]
ENST00000263321.5:c.[575C>A;1205G>A]	ENSP00000263321.4:p.[Ser192Tyr;Arg402Gln]
NM_000372.4:c.[575C>A;1205G>A]	NP_000363.1:p.[Ser192Tyr;Arg402Gln]
XM_011542970.1:c.[575C>A;1205G>A]	XP_011541272.1:p.[Ser192Tyr;Arg402Gln]
XM_011542970.2:c.[575C>A;1205G>A]	XP_011541272.1:p.[Ser192Tyr;Arg402Gln]
XR_001748321.1:n.[2456+1241C>T;2718-64995G>T]
XR_001748322.1:n.[2457+1241C>T;2733-64995G>T]
NM_000372.5:c.[575C>A;1205G>A] MANE Select	NP_000363.1:p.[Ser192Tyr;Arg402Gln]