Canonical Allele Identifier: CA414839743

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21867885A>G (hg19) ; chrY:g.19705999A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19705999A>G , CM000686.2:g.19705999A>G	GRCh38
NC_000024.9:g.21867885A>G , CM000686.1:g.21867885A>G	GRCh37
NC_000024.8:g.20327273A>G	NCBI36
NG_032920.1:g.43941T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000317961.9:c.4616T>C MANE Select	ENSP00000322408.4:p.Leu1539Ser
ENST00000317961.8:c.4616T>C	ENSP00000322408.4:p.Leu1539Ser
ENST00000382806.6:c.4445T>C	ENSP00000372256.2:p.Leu1482Ser
ENST00000469599.6:n.3367T>C
ENST00000492117.1:n.4661T>C
ENST00000541639.5:c.4709T>C	ENSP00000444293.1:p.Leu1570Ser
NM_001146705.1:c.4709T>C	NP_001140177.1:p.Leu1570Ser
NM_001146706.1:c.4445T>C	NP_001140178.1:p.Leu1482Ser
NM_004653.4:c.4616T>C	NP_004644.2:p.Leu1539Ser
XM_005262560.1:c.4481T>C	XP_005262617.1:p.Leu1494Ser
XM_005262561.1:c.4385T>C	XP_005262618.1:p.Leu1462Ser
XM_011531468.1:c.4538T>C	XP_011529770.1:p.Leu1513Ser
XR_430568.2:n.5391T>C
XM_005262560.3:c.4481T>C	XP_005262617.1:p.Leu1494Ser
XM_005262561.3:c.4385T>C	XP_005262618.1:p.Leu1462Ser
XM_011531468.3:c.4538T>C	XP_011529770.1:p.Leu1513Ser
XM_024452495.1:c.2606T>C	XP_024308263.1:p.Leu869Ser
XM_024452496.1:c.2372T>C	XP_024308264.1:p.Leu791Ser
XR_001756009.2:n.5354T>C
XR_001756010.2:n.5322T>C
XR_001756011.2:n.5219T>C
XR_001756012.2:n.5367T>C
XR_001756013.2:n.4685T>C
XR_002958832.1:n.4939T>C
XR_002958834.1:n.5010T>C
XR_002958835.1:n.4893T>C
XR_002958836.1:n.5544T>C
XR_002958837.1:n.5351T>C
XR_244571.4:n.4871T>C
XR_430568.4:n.5390T>C
NM_001146706.2:c.4445T>C	NP_001140178.1:p.Leu1482Ser
NM_004653.5:c.4616T>C MANE Select	NP_004644.2:p.Leu1539Ser
NM_001146705.2:c.4709T>C	NP_001140177.1:p.Leu1570Ser