Canonical Allele Identifier: CA337439785

Gene: KDM5D

Linked Data

• dbSNP Id: rs2032631
• gnomAD v3: Y-19705901-A-G
• gnomAD v4: Y-19705901-A-G
• MyVariant Identifiers: chrY:g.21867787A>G (hg19) ; chrY:g.19705901A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19705901A>G , CM000686.2:g.19705901A>G	GRCh38
NC_000024.9:g.21867787A>G , CM000686.1:g.21867787A>G	GRCh37
NC_000024.8:g.20327175A>G	NCBI36
NG_032920.1:g.44039T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000317961.9:c.*94T>C MANE Select	ENSP00000322408.4:n.*94T>C
ENST00000317961.8:c.*94T>C	ENSP00000322408.4:n.*94T>C
ENST00000382806.6:c.*94T>C	ENSP00000372256.2:n.*94T>C
ENST00000469599.6:n.3465T>C
ENST00000492117.1:n.4759T>C
ENST00000541639.5:c.*94T>C	ENSP00000444293.1:n.*94T>C
NM_001146705.1:c.*94T>C	NP_001140177.1:n.*94T>C
NM_001146706.1:c.*94T>C	NP_001140178.1:n.*94T>C
NM_004653.4:c.*94T>C	NP_004644.2:n.*94T>C
XM_005262560.1:c.*94T>C	XP_005262617.1:n.*94T>C
XM_005262561.1:c.*94T>C	XP_005262618.1:n.*94T>C
XM_011531468.1:c.*94T>C	XP_011529770.1:n.*94T>C
XR_430568.2:n.5489T>C
XM_005262560.3:c.*94T>C	XP_005262617.1:n.*94T>C
XM_005262561.3:c.*94T>C	XP_005262618.1:n.*94T>C
XM_011531468.3:c.*94T>C	XP_011529770.1:n.*94T>C
XM_024452495.1:c.*94T>C	XP_024308263.1:n.*94T>C
XM_024452496.1:c.*94T>C	XP_024308264.1:n.*94T>C
XR_001756009.2:n.5452T>C
XR_001756010.2:n.5420T>C
XR_001756011.2:n.5317T>C
XR_001756012.2:n.5465T>C
XR_001756013.2:n.4783T>C
XR_002958832.1:n.5037T>C
XR_002958834.1:n.5108T>C
XR_002958835.1:n.4991T>C
XR_002958836.1:n.5642T>C
XR_002958837.1:n.5449T>C
XR_244571.4:n.4969T>C
XR_430568.4:n.5488T>C
NM_001146706.2:c.*94T>C	NP_001140178.1:n.*94T>C
NM_004653.5:c.*94T>C MANE Select	NP_004644.2:n.*94T>C
NM_001146705.2:c.*94T>C	NP_001140177.1:n.*94T>C