Canonical Allele Identifier: CA414844153

Gene: KDM5D

Linked Data

• dbSNP Id: rs1229398035
• gnomAD v2: Y-21869618-C-G
• MyVariant Identifiers: chrY:g.21869618C>G (hg19) ; chrY:g.19707732C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707732C>G , CM000686.2:g.19707732C>G	GRCh38
NC_000024.9:g.21869618C>G , CM000686.1:g.21869618C>G	GRCh37
NC_000024.8:g.20329006C>G	NCBI36
NG_032920.1:g.42208G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3414G>C MANE Select	ENSP00000322408.4:p.Lys1138Asn
ENST00000317961.8:c.3414G>C	ENSP00000322408.4:p.Lys1138Asn
ENST00000382806.6:c.3243G>C	ENSP00000372256.2:p.Lys1081Asn
ENST00000415360.1:c.330G>C	ENSP00000389433.1:p.Lys110Asn
ENST00000440077.5:c.3291G>C	ENSP00000398543.1:p.Lys1097Asn
ENST00000469599.6:n.2012G>C
ENST00000492117.1:n.3306G>C
ENST00000541639.5:c.3507G>C	ENSP00000444293.1:p.Lys1169Asn
NM_001146705.1:c.3507G>C	NP_001140177.1:p.Lys1169Asn
NM_001146706.1:c.3243G>C	NP_001140178.1:p.Lys1081Asn
NM_004653.4:c.3414G>C	NP_004644.2:p.Lys1138Asn
XM_005262560.1:c.3279G>C	XP_005262617.1:p.Lys1093Asn
XM_005262561.1:c.3183G>C	XP_005262618.1:p.Lys1061Asn
XM_011531468.1:c.3336G>C	XP_011529770.1:p.Lys1112Asn
XR_244571.2:n.3702G>C
XR_430568.2:n.4036G>C
XM_005262560.3:c.3279G>C	XP_005262617.1:p.Lys1093Asn
XM_005262561.3:c.3183G>C	XP_005262618.1:p.Lys1061Asn
XM_011531468.3:c.3336G>C	XP_011529770.1:p.Lys1112Asn
XM_024452495.1:c.1404G>C	XP_024308263.1:p.Lys468Asn
XM_024452496.1:c.1170G>C	XP_024308264.1:p.Lys390Asn
XR_001756009.2:n.4152G>C
XR_001756010.2:n.4152G>C
XR_001756011.2:n.4017G>C
XR_001756012.2:n.4165G>C
XR_001756013.2:n.3483G>C
XR_002958832.1:n.3584G>C
XR_002958834.1:n.3808G>C
XR_002958835.1:n.3691G>C
XR_002958836.1:n.4374G>C
XR_002958837.1:n.4181G>C
XR_244571.4:n.3701G>C
XR_430568.4:n.4035G>C
NM_001146706.2:c.3243G>C	NP_001140178.1:p.Lys1081Asn
NM_004653.5:c.3414G>C MANE Select	NP_004644.2:p.Lys1138Asn
NM_001146705.2:c.3507G>C	NP_001140177.1:p.Lys1169Asn