Canonical Allele Identifier: CA601003037

Gene: TYR

Linked Data

• dbSNP Id: rs1290779485
• gnomAD v2: 11-89017886-A-C
• gnomAD v3: 11-89284718-A-C
• gnomAD v4: 11-89284718-A-C
• MyVariant Identifiers: chr11:g.89017886A>C (hg19) ; chr11:g.89284718A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.89284718A>C , CM000673.2:g.89284718A>C	GRCh38
NC_000011.9:g.89017886A>C , CM000673.1:g.89017886A>C	GRCh37
NC_000011.8:g.88657534A>C	NCBI36
NG_008748.1:g.111847A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000263321.6:c.1185-55A>C MANE Select	ENSP00000263321.4:n.1185-55A>C
ENST00000263321.5:c.1185-55A>C	ENSP00000263321.4:n.1185-55A>C
ENST00000528243.1:n.183-55A>C
NM_000372.4:c.1185-55A>C	NP_000363.1:n.1185-55A>C
XM_011542970.1:c.1185-55A>C	XP_011541272.1:n.1185-55A>C
XM_011542970.2:c.1185-55A>C	XP_011541272.1:n.1185-55A>C
XR_001748321.1:n.2456+1316T>G
XR_001748322.1:n.2457+1316T>G
NM_000372.5:c.1185-55A>C MANE Select	NP_000363.1:n.1185-55A>C