Canonical Allele Identifier: CA414839920

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21867934G>A (hg19) ; chrY:g.19706048G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19706048G>A , CM000686.2:g.19706048G>A	GRCh38
NC_000024.9:g.21867934G>A , CM000686.1:g.21867934G>A	GRCh37
NC_000024.8:g.20327322G>A	NCBI36
NG_032920.1:g.43892C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.4567C>T MANE Select	ENSP00000322408.4:p.Pro1523Ser
ENST00000317961.8:c.4567C>T	ENSP00000322408.4:p.Pro1523Ser
ENST00000382806.6:c.4396C>T	ENSP00000372256.2:p.Pro1466Ser
ENST00000469599.6:n.3318C>T
ENST00000492117.1:n.4612C>T
ENST00000541639.5:c.4660C>T	ENSP00000444293.1:p.Pro1554Ser
NM_001146705.1:c.4660C>T	NP_001140177.1:p.Pro1554Ser
NM_001146706.1:c.4396C>T	NP_001140178.1:p.Pro1466Ser
NM_004653.4:c.4567C>T	NP_004644.2:p.Pro1523Ser
XM_005262560.1:c.4432C>T	XP_005262617.1:p.Pro1478Ser
XM_005262561.1:c.4336C>T	XP_005262618.1:p.Pro1446Ser
XM_011531468.1:c.4489C>T	XP_011529770.1:p.Pro1497Ser
XR_430568.2:n.5342C>T
XM_005262560.3:c.4432C>T	XP_005262617.1:p.Pro1478Ser
XM_005262561.3:c.4336C>T	XP_005262618.1:p.Pro1446Ser
XM_011531468.3:c.4489C>T	XP_011529770.1:p.Pro1497Ser
XM_024452495.1:c.2557C>T	XP_024308263.1:p.Pro853Ser
XM_024452496.1:c.2323C>T	XP_024308264.1:p.Pro775Ser
XR_001756009.2:n.5305C>T
XR_001756010.2:n.5273C>T
XR_001756011.2:n.5170C>T
XR_001756012.2:n.5318C>T
XR_001756013.2:n.4636C>T
XR_002958832.1:n.4890C>T
XR_002958834.1:n.4961C>T
XR_002958835.1:n.4844C>T
XR_002958836.1:n.5495C>T
XR_002958837.1:n.5302C>T
XR_244571.4:n.4822C>T
XR_430568.4:n.5341C>T
NM_001146706.2:c.4396C>T	NP_001140178.1:p.Pro1466Ser
NM_004653.5:c.4567C>T MANE Select	NP_004644.2:p.Pro1523Ser
NM_001146705.2:c.4660C>T	NP_001140177.1:p.Pro1554Ser