Canonical Allele Identifier: CA226650347

Gene: TYR

Linked Data

• dbSNP Id: rs557294743
• gnomAD v3: 11-89284720-G-A
• gnomAD v4: 11-89284720-G-A
• COSMIC: COSN20159004
• MyVariant Identifiers: chr11:g.89017888G>A (hg19) ; chr11:g.89284720G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.89284720G>A , CM000673.2:g.89284720G>A	GRCh38
NC_000011.9:g.89017888G>A , CM000673.1:g.89017888G>A	GRCh37
NC_000011.8:g.88657536G>A	NCBI36
NG_008748.1:g.111849G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000263321.6:c.1185-53G>A MANE Select	ENSP00000263321.4:n.1185-53G>A
ENST00000263321.5:c.1185-53G>A	ENSP00000263321.4:n.1185-53G>A
ENST00000528243.1:n.183-53G>A
NM_000372.4:c.1185-53G>A	NP_000363.1:n.1185-53G>A
XM_011542970.1:c.1185-53G>A	XP_011541272.1:n.1185-53G>A
XM_011542970.2:c.1185-53G>A	XP_011541272.1:n.1185-53G>A
XR_001748321.1:n.2456+1314C>T
XR_001748322.1:n.2457+1314C>T
NM_000372.5:c.1185-53G>A MANE Select	NP_000363.1:n.1185-53G>A