Canonical Allele Identifier: CA8961605
Gene: MYO5B HGNC NCBI

Linked Data

dbSNP Id: rs757511853
ExAC: 18:47500826 T / A
gnomAD v2: 18-47500826-T-A
gnomAD v4: 18-49974456-T-A
MyVariant Identifiers: chr18:g.47500826T>A (hg19) chr18:g.49974456T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.49974456T>A , CM000680.2:g.49974456T>A GRCh38
NC_000018.9:g.47500826T>A , CM000680.1:g.47500826T>A GRCh37
NC_000018.8:g.45754824T>A NCBI36
NG_012925.1:g.225626A>T
NG_012925.2:g.225626A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000697219.1:c.1013A>T
ENST00000285039.12:c.1216A>T MANE Select ENSP00000285039.6:p.Lys406Ter
ENST00000285039.11:c.1216A>T ENSP00000285039.6:p.Lys406Ter
ENST00000616031.4:c.1213A>T ENSP00000479038.1:p.Lys405Ter
NM_001080467.2:c.1216A>T NP_001073936.1:p.Lys406Ter
NM_001080467.3:c.1216A>T MANE Select NP_001073936.1:p.Lys406Ter
Search 100 bp 5'
Search 100 bp 3'