Canonical Allele Identifier: CA414843989

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869558C>G (hg19) ; chrY:g.19707672C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707672C>G , CM000686.2:g.19707672C>G	GRCh38
NC_000024.9:g.21869558C>G , CM000686.1:g.21869558C>G	GRCh37
NC_000024.8:g.20328946C>G	NCBI36
NG_032920.1:g.42268G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3474G>C MANE Select	ENSP00000322408.4:p.Lys1158Asn
ENST00000317961.8:c.3474G>C	ENSP00000322408.4:p.Lys1158Asn
ENST00000382806.6:c.3303G>C	ENSP00000372256.2:p.Lys1101Asn
ENST00000415360.1:c.390G>C	ENSP00000389433.1:p.Lys130Asn
ENST00000440077.5:c.3351G>C	ENSP00000398543.1:p.Lys1117Asn
ENST00000469599.6:n.2072G>C
ENST00000492117.1:n.3366G>C
ENST00000541639.5:c.3567G>C	ENSP00000444293.1:p.Lys1189Asn
NM_001146705.1:c.3567G>C	NP_001140177.1:p.Lys1189Asn
NM_001146706.1:c.3303G>C	NP_001140178.1:p.Lys1101Asn
NM_004653.4:c.3474G>C	NP_004644.2:p.Lys1158Asn
XM_005262560.1:c.3339G>C	XP_005262617.1:p.Lys1113Asn
XM_005262561.1:c.3243G>C	XP_005262618.1:p.Lys1081Asn
XM_011531468.1:c.3396G>C	XP_011529770.1:p.Lys1132Asn
XR_244571.2:n.3762G>C
XR_430568.2:n.4096G>C
XM_005262560.3:c.3339G>C	XP_005262617.1:p.Lys1113Asn
XM_005262561.3:c.3243G>C	XP_005262618.1:p.Lys1081Asn
XM_011531468.3:c.3396G>C	XP_011529770.1:p.Lys1132Asn
XM_024452495.1:c.1464G>C	XP_024308263.1:p.Lys488Asn
XM_024452496.1:c.1230G>C	XP_024308264.1:p.Lys410Asn
XR_001756009.2:n.4212G>C
XR_001756010.2:n.4212G>C
XR_001756011.2:n.4077G>C
XR_001756012.2:n.4225G>C
XR_001756013.2:n.3543G>C
XR_002958832.1:n.3644G>C
XR_002958834.1:n.3868G>C
XR_002958835.1:n.3751G>C
XR_002958836.1:n.4434G>C
XR_002958837.1:n.4241G>C
XR_244571.4:n.3761G>C
XR_430568.4:n.4095G>C
NM_001146706.2:c.3303G>C	NP_001140178.1:p.Lys1101Asn
NM_004653.5:c.3474G>C MANE Select	NP_004644.2:p.Lys1158Asn
NM_001146705.2:c.3567G>C	NP_001140177.1:p.Lys1189Asn