Canonical Allele Identifier: CA601191358

Gene: TYR

Linked Data

• dbSNP Id: rs1441912258
• gnomAD v2: 11-88911963-T-C
• gnomAD v4: 11-89178795-T-C
• MyVariant Identifiers: chr11:g.88911963T>C (hg19) ; chr11:g.89178795T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.89178795T>C , CM000673.2:g.89178795T>C	GRCh38
NC_000011.9:g.88911963T>C , CM000673.1:g.88911963T>C	GRCh37
NC_000011.8:g.88551611T>C	NCBI36
NG_008748.1:g.5924T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263321.6:c.819+23T>C MANE Select	ENSP00000263321.4:n.819+23T>C
ENST00000263321.5:c.819+23T>C	ENSP00000263321.4:n.819+23T>C
ENST00000526139.1:n.880+23T>C
NM_000372.4:c.819+23T>C	NP_000363.1:n.819+23T>C
XM_011542970.1:c.819+23T>C	XP_011541272.1:n.819+23T>C
XM_011542970.2:c.819+23T>C	XP_011541272.1:n.819+23T>C
XR_001748321.1:n.2718-65262A>G
XR_001748322.1:n.2733-65262A>G
NM_000372.5:c.819+23T>C MANE Select	NP_000363.1:n.819+23T>C