Canonical Allele Identifier: CA414843319

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869374G>T (hg19) ; chrY:g.19707488G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707488G>T , CM000686.2:g.19707488G>T	GRCh38
NC_000024.9:g.21869374G>T , CM000686.1:g.21869374G>T	GRCh37
NC_000024.8:g.20328762G>T	NCBI36
NG_032920.1:g.42452C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3658C>A MANE Select	ENSP00000322408.4:p.Leu1220Ile
ENST00000317961.8:c.3658C>A	ENSP00000322408.4:p.Leu1220Ile
ENST00000382806.6:c.3487C>A	ENSP00000372256.2:p.Leu1163Ile
ENST00000415360.1:c.574C>A	ENSP00000389433.1:p.Leu192Ile
ENST00000440077.5:c.3535C>A	ENSP00000398543.1:p.Leu1179Ile
ENST00000469599.6:n.2256C>A
ENST00000492117.1:n.3550C>A
ENST00000541639.5:c.3751C>A	ENSP00000444293.1:p.Leu1251Ile
NM_001146705.1:c.3751C>A	NP_001140177.1:p.Leu1251Ile
NM_001146706.1:c.3487C>A	NP_001140178.1:p.Leu1163Ile
NM_004653.4:c.3658C>A	NP_004644.2:p.Leu1220Ile
XM_005262560.1:c.3523C>A	XP_005262617.1:p.Leu1175Ile
XM_005262561.1:c.3427C>A	XP_005262618.1:p.Leu1143Ile
XM_011531468.1:c.3580C>A	XP_011529770.1:p.Leu1194Ile
XR_244571.2:n.3946C>A
XR_430568.2:n.4280C>A
XM_005262560.3:c.3523C>A	XP_005262617.1:p.Leu1175Ile
XM_005262561.3:c.3427C>A	XP_005262618.1:p.Leu1143Ile
XM_011531468.3:c.3580C>A	XP_011529770.1:p.Leu1194Ile
XM_024452495.1:c.1648C>A	XP_024308263.1:p.Leu550Ile
XM_024452496.1:c.1414C>A	XP_024308264.1:p.Leu472Ile
XR_001756009.2:n.4396C>A
XR_001756010.2:n.4396C>A
XR_001756011.2:n.4261C>A
XR_001756012.2:n.4409C>A
XR_001756013.2:n.3727C>A
XR_002958832.1:n.3828C>A
XR_002958834.1:n.4052C>A
XR_002958835.1:n.3935C>A
XR_002958836.1:n.4618C>A
XR_002958837.1:n.4425C>A
XR_244571.4:n.3945C>A
XR_430568.4:n.4279C>A
NM_001146706.2:c.3487C>A	NP_001140178.1:p.Leu1163Ile
NM_004653.5:c.3658C>A MANE Select	NP_004644.2:p.Leu1220Ile
NM_001146705.2:c.3751C>A	NP_001140177.1:p.Leu1251Ile