Canonical Allele Identifier: CA10574716

Gene: KDM5D

Linked Data

• dbSNP Id: rs779505481
• ExAC: Y:21868793 C / A
• gnomAD v2: Y-21868793-C-A
• MyVariant Identifiers: chrY:g.21868793C>A (hg19) ; chrY:g.19706907C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19706907C>A , CM000686.2:g.19706907C>A	GRCh38
NC_000024.9:g.21868793C>A , CM000686.1:g.21868793C>A	GRCh37
NC_000024.8:g.20328181C>A	NCBI36
NG_032920.1:g.43033G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.4000-44G>T MANE Select	ENSP00000322408.4:n.4000-44G>T
ENST00000317961.8:c.4000-44G>T	ENSP00000322408.4:n.4000-44G>T
ENST00000382806.6:c.3829-44G>T	ENSP00000372256.2:n.3829-44G>T
ENST00000440077.5:c.3877-44G>T	ENSP00000398543.1:n.3877-44G>T
ENST00000469599.6:n.2598-44G>T
ENST00000492117.1:n.3892-44G>T
ENST00000541639.5:c.4093-44G>T	ENSP00000444293.1:n.4093-44G>T
NM_001146705.1:c.4093-44G>T	NP_001140177.1:n.4093-44G>T
NM_001146706.1:c.3829-44G>T	NP_001140178.1:n.3829-44G>T
NM_004653.4:c.4000-44G>T	NP_004644.2:n.4000-44G>T
XM_005262560.1:c.3865-44G>T	XP_005262617.1:n.3865-44G>T
XM_005262561.1:c.3769-44G>T	XP_005262618.1:n.3769-44G>T
XM_011531468.1:c.3922-44G>T	XP_011529770.1:n.3922-44G>T
XR_244571.2:n.4288-44G>T
XR_430568.2:n.4622-44G>T
XM_005262560.3:c.3865-44G>T	XP_005262617.1:n.3865-44G>T
XM_005262561.3:c.3769-44G>T	XP_005262618.1:n.3769-44G>T
XM_011531468.3:c.3922-44G>T	XP_011529770.1:n.3922-44G>T
XM_024452495.1:c.1990-44G>T	XP_024308263.1:n.1990-44G>T
XM_024452496.1:c.1756-44G>T	XP_024308264.1:n.1756-44G>T
XR_001756009.2:n.4738-44G>T
XR_001756010.2:n.4738-44G>T
XR_001756011.2:n.4603-44G>T
XR_001756012.2:n.4751-44G>T
XR_001756013.2:n.4069-44G>T
XR_002958832.1:n.4170-44G>T
XR_002958834.1:n.4394-44G>T
XR_002958835.1:n.4277-44G>T
XR_002958836.1:n.4960-44G>T
XR_002958837.1:n.4767-44G>T
XR_244571.4:n.4287-44G>T
XR_430568.4:n.4621-44G>T
NM_001146706.2:c.3829-44G>T	NP_001140178.1:n.3829-44G>T
NM_004653.5:c.4000-44G>T MANE Select	NP_004644.2:n.4000-44G>T
NM_001146705.2:c.4093-44G>T	NP_001140177.1:n.4093-44G>T