Canonical Allele Identifier: CA414840242

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21868015G>C (hg19) ; chrY:g.19706129G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19706129G>C , CM000686.2:g.19706129G>C	GRCh38
NC_000024.9:g.21868015G>C , CM000686.1:g.21868015G>C	GRCh37
NC_000024.8:g.20327403G>C	NCBI36
NG_032920.1:g.43811C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.4486C>G MANE Select	ENSP00000322408.4:p.Pro1496Ala
ENST00000317961.8:c.4486C>G	ENSP00000322408.4:p.Pro1496Ala
ENST00000382806.6:c.4315C>G	ENSP00000372256.2:p.Pro1439Ala
ENST00000440077.5:c.4363C>G	ENSP00000398543.1:p.Pro1455Ala
ENST00000469599.6:n.3237C>G
ENST00000492117.1:n.4531C>G
ENST00000541639.5:c.4579C>G	ENSP00000444293.1:p.Pro1527Ala
NM_001146705.1:c.4579C>G	NP_001140177.1:p.Pro1527Ala
NM_001146706.1:c.4315C>G	NP_001140178.1:p.Pro1439Ala
NM_004653.4:c.4486C>G	NP_004644.2:p.Pro1496Ala
XM_005262560.1:c.4351C>G	XP_005262617.1:p.Pro1451Ala
XM_005262561.1:c.4255C>G	XP_005262618.1:p.Pro1419Ala
XM_011531468.1:c.4408C>G	XP_011529770.1:p.Pro1470Ala
XR_430568.2:n.5261C>G
XM_005262560.3:c.4351C>G	XP_005262617.1:p.Pro1451Ala
XM_005262561.3:c.4255C>G	XP_005262618.1:p.Pro1419Ala
XM_011531468.3:c.4408C>G	XP_011529770.1:p.Pro1470Ala
XM_024452495.1:c.2476C>G	XP_024308263.1:p.Pro826Ala
XM_024452496.1:c.2242C>G	XP_024308264.1:p.Pro748Ala
XR_001756009.2:n.5224C>G
XR_001756010.2:n.5192C>G
XR_001756011.2:n.5089C>G
XR_001756012.2:n.5237C>G
XR_001756013.2:n.4555C>G
XR_002958832.1:n.4809C>G
XR_002958834.1:n.4880C>G
XR_002958835.1:n.4763C>G
XR_002958836.1:n.5414C>G
XR_002958837.1:n.5221C>G
XR_244571.4:n.4741C>G
XR_430568.4:n.5260C>G
NM_001146706.2:c.4315C>G	NP_001140178.1:p.Pro1439Ala
NM_004653.5:c.4486C>G MANE Select	NP_004644.2:p.Pro1496Ala
NM_001146705.2:c.4579C>G	NP_001140177.1:p.Pro1527Ala