Canonical Allele Identifier: CA385500561

Gene: KIF5A

Linked Data

• gnomAD v4: 12-57569288-G-T
• MyVariant Identifiers: chr12:g.57963071G>T (hg19) ; chr12:g.57569288G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57569288G>T , CM000674.2:g.57569288G>T	GRCh38
NC_000012.11:g.57963071G>T , CM000674.1:g.57963071G>T	GRCh37
NC_000012.10:g.56249338G>T	NCBI36
NG_008155.1:g.24225G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455537.7:c.852G>T MANE Select	ENSP00000408979.2:p.Met284Ile
ENST00000674619.1:c.852G>T	ENSP00000502270.1:p.Met284Ile
ENST00000676457.1:c.747G>T	ENSP00000501588.1:p.Met249Ile
ENST00000286452.5:c.585G>T	ENSP00000286452.5:p.Met195Ile
ENST00000455537.6:c.852G>T	ENSP00000408979.2:p.Met284Ile
NM_004984.2:c.852G>T	NP_004975.2:p.Met284Ile
NM_001354705.1:c.585G>T	NP_001341634.1:p.Met195Ile
NM_004984.3:c.852G>T	NP_004975.2:p.Met284Ile
XR_002957324.1:n.1085G>T
NM_004984.4:c.852G>T MANE Select	NP_004975.2:p.Met284Ile
NM_001354705.2:c.585G>T	NP_001341634.1:p.Met195Ile