Canonical Allele Identifier: CA414840240

Gene: KDM5D

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.4486C>T MANE Select	ENSP00000322408.4:p.Pro1496Ser
ENST00000317961.8:c.4486C>T	ENSP00000322408.4:p.Pro1496Ser
ENST00000382806.6:c.4315C>T	ENSP00000372256.2:p.Pro1439Ser
ENST00000440077.5:c.4363C>T	ENSP00000398543.1:p.Pro1455Ser
ENST00000469599.6:n.3237C>T
ENST00000492117.1:n.4531C>T
ENST00000541639.5:c.4579C>T	ENSP00000444293.1:p.Pro1527Ser
NM_001146705.1:c.4579C>T	NP_001140177.1:p.Pro1527Ser
NM_001146706.1:c.4315C>T	NP_001140178.1:p.Pro1439Ser
NM_004653.4:c.4486C>T	NP_004644.2:p.Pro1496Ser
XM_005262560.1:c.4351C>T	XP_005262617.1:p.Pro1451Ser
XM_005262561.1:c.4255C>T	XP_005262618.1:p.Pro1419Ser
XM_011531468.1:c.4408C>T	XP_011529770.1:p.Pro1470Ser
XR_430568.2:n.5261C>T
XM_005262560.3:c.4351C>T	XP_005262617.1:p.Pro1451Ser
XM_005262561.3:c.4255C>T	XP_005262618.1:p.Pro1419Ser
XM_011531468.3:c.4408C>T	XP_011529770.1:p.Pro1470Ser
XM_024452495.1:c.2476C>T	XP_024308263.1:p.Pro826Ser
XM_024452496.1:c.2242C>T	XP_024308264.1:p.Pro748Ser
XR_001756009.2:n.5224C>T
XR_001756010.2:n.5192C>T
XR_001756011.2:n.5089C>T
XR_001756012.2:n.5237C>T
XR_001756013.2:n.4555C>T
XR_002958832.1:n.4809C>T
XR_002958834.1:n.4880C>T
XR_002958835.1:n.4763C>T
XR_002958836.1:n.5414C>T
XR_002958837.1:n.5221C>T
XR_244571.4:n.4741C>T
XR_430568.4:n.5260C>T
NM_001146706.2:c.4315C>T	NP_001140178.1:p.Pro1439Ser
NM_004653.5:c.4486C>T MANE Select	NP_004644.2:p.Pro1496Ser
NM_001146705.2:c.4579C>T	NP_001140177.1:p.Pro1527Ser