Canonical Allele Identifier: CA10574714

Gene: KDM5D

Linked Data

• dbSNP Id: rs749339724
• ExAC: Y:21868774 C / T
• gnomAD v2: Y-21868774-C-T
• MyVariant Identifiers: chrY:g.21868774C>T (hg19) ; chrY:g.19706888C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19706888C>T , CM000686.2:g.19706888C>T	GRCh38
NC_000024.9:g.21868774C>T , CM000686.1:g.21868774C>T	GRCh37
NC_000024.8:g.20328162C>T	NCBI36
NG_032920.1:g.43052G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.4000-25G>A MANE Select	ENSP00000322408.4:n.4000-25G>A
ENST00000317961.8:c.4000-25G>A	ENSP00000322408.4:n.4000-25G>A
ENST00000382806.6:c.3829-25G>A	ENSP00000372256.2:n.3829-25G>A
ENST00000440077.5:c.3877-25G>A	ENSP00000398543.1:n.3877-25G>A
ENST00000469599.6:n.2598-25G>A
ENST00000492117.1:n.3892-25G>A
ENST00000541639.5:c.4093-25G>A	ENSP00000444293.1:n.4093-25G>A
NM_001146705.1:c.4093-25G>A	NP_001140177.1:n.4093-25G>A
NM_001146706.1:c.3829-25G>A	NP_001140178.1:n.3829-25G>A
NM_004653.4:c.4000-25G>A	NP_004644.2:n.4000-25G>A
XM_005262560.1:c.3865-25G>A	XP_005262617.1:n.3865-25G>A
XM_005262561.1:c.3769-25G>A	XP_005262618.1:n.3769-25G>A
XM_011531468.1:c.3922-25G>A	XP_011529770.1:n.3922-25G>A
XR_244571.2:n.4288-25G>A
XR_430568.2:n.4622-25G>A
XM_005262560.3:c.3865-25G>A	XP_005262617.1:n.3865-25G>A
XM_005262561.3:c.3769-25G>A	XP_005262618.1:n.3769-25G>A
XM_011531468.3:c.3922-25G>A	XP_011529770.1:n.3922-25G>A
XM_024452495.1:c.1990-25G>A	XP_024308263.1:n.1990-25G>A
XM_024452496.1:c.1756-25G>A	XP_024308264.1:n.1756-25G>A
XR_001756009.2:n.4738-25G>A
XR_001756010.2:n.4738-25G>A
XR_001756011.2:n.4603-25G>A
XR_001756012.2:n.4751-25G>A
XR_001756013.2:n.4069-25G>A
XR_002958832.1:n.4170-25G>A
XR_002958834.1:n.4394-25G>A
XR_002958835.1:n.4277-25G>A
XR_002958836.1:n.4960-25G>A
XR_002958837.1:n.4767-25G>A
XR_244571.4:n.4287-25G>A
XR_430568.4:n.4621-25G>A
NM_001146706.2:c.3829-25G>A	NP_001140178.1:n.3829-25G>A
NM_004653.5:c.4000-25G>A MANE Select	NP_004644.2:n.4000-25G>A
NM_001146705.2:c.4093-25G>A	NP_001140177.1:n.4093-25G>A