Canonical Allele Identifier: CA2619394010
Gene: MYO1A HGNC NCBI

Linked Data

gnomAD v4: 12-57041362-C-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57041362C>G , CM000674.2:g.57041362C>G GRCh38
NC_000012.11:g.57435146C>G , CM000674.1:g.57435146C>G GRCh37
NC_000012.10:g.55721413C>G NCBI36
NG_012104.1:g.13748G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000300119.8:c.1164+70G>C MANE Select ENSP00000300119.3:n.1164+70G>C
ENST00000300119.7:c.1164+70G>C ENSP00000300119.3:n.1164+70G>C
ENST00000442789.6:c.1164+70G>C ENSP00000393392.2:n.1164+70G>C
ENST00000554234.5:c.678+70G>C ENSP00000451033.1:n.678+70G>C
NM_001256041.1:c.1164+70G>C NP_001242970.1:n.1164+70G>C
NM_005379.3:c.1164+70G>C NP_005370.1:n.1164+70G>C
XM_011538373.1:c.1164+70G>C XP_011536675.1:n.1164+70G>C
XM_011538373.2:c.1164+70G>C XP_011536675.1:n.1164+70G>C
NM_005379.4:c.1164+70G>C MANE Select NP_005370.1:n.1164+70G>C
NM_001256041.2:c.1164+70G>C NP_001242970.1:n.1164+70G>C
Search 100 bp 5'
Search 100 bp 3'