Canonical Allele Identifier: CA414840374

Gene: KDM5D

Linked Data

• gnomAD v3: Y-19706163-C-A
• gnomAD v4: Y-19706163-C-A
• MyVariant Identifiers: chrY:g.21868049C>A (hg19) ; chrY:g.19706163C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19706163C>A , CM000686.2:g.19706163C>A	GRCh38
NC_000024.9:g.21868049C>A , CM000686.1:g.21868049C>A	GRCh37
NC_000024.8:g.20327437C>A	NCBI36
NG_032920.1:g.43777G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.4452G>T MANE Select	ENSP00000322408.4:p.Gln1484His
ENST00000317961.8:c.4452G>T	ENSP00000322408.4:p.Gln1484His
ENST00000382806.6:c.4281G>T	ENSP00000372256.2:p.Gln1427His
ENST00000440077.5:c.4329G>T	ENSP00000398543.1:p.Gln1443His
ENST00000469599.6:n.3203G>T
ENST00000492117.1:n.4497G>T
ENST00000541639.5:c.4545G>T	ENSP00000444293.1:p.Gln1515His
NM_001146705.1:c.4545G>T	NP_001140177.1:p.Gln1515His
NM_001146706.1:c.4281G>T	NP_001140178.1:p.Gln1427His
NM_004653.4:c.4452G>T	NP_004644.2:p.Gln1484His
XM_005262560.1:c.4317G>T	XP_005262617.1:p.Gln1439His
XM_005262561.1:c.4221G>T	XP_005262618.1:p.Gln1407His
XM_011531468.1:c.4374G>T	XP_011529770.1:p.Gln1458His
XR_430568.2:n.5227G>T
XM_005262560.3:c.4317G>T	XP_005262617.1:p.Gln1439His
XM_005262561.3:c.4221G>T	XP_005262618.1:p.Gln1407His
XM_011531468.3:c.4374G>T	XP_011529770.1:p.Gln1458His
XM_024452495.1:c.2442G>T	XP_024308263.1:p.Gln814His
XM_024452496.1:c.2208G>T	XP_024308264.1:p.Gln736His
XR_001756009.2:n.5190G>T
XR_001756010.2:n.5158G>T
XR_001756011.2:n.5055G>T
XR_001756012.2:n.5203G>T
XR_001756013.2:n.4521G>T
XR_002958832.1:n.4775G>T
XR_002958834.1:n.4846G>T
XR_002958835.1:n.4729G>T
XR_002958836.1:n.5380G>T
XR_002958837.1:n.5187G>T
XR_244571.4:n.4707G>T
XR_430568.4:n.5226G>T
NM_001146706.2:c.4281G>T	NP_001140178.1:p.Gln1427His
NM_004653.5:c.4452G>T MANE Select	NP_004644.2:p.Gln1484His
NM_001146705.2:c.4545G>T	NP_001140177.1:p.Gln1515His