Canonical Allele Identifier: CA520516506

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869374G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707488G>A , CM000686.2:g.19707488G>A	GRCh38
NC_000024.9:g.21869374G>A , CM000686.1:g.21869374G>A	GRCh37
NC_000024.8:g.20328762G>A	NCBI36
NG_032920.1:g.42452C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3658C>T MANE Select	ENSP00000322408.4:p.Leu1220=
ENST00000317961.8:c.3658C>T	ENSP00000322408.4:p.Leu1220=
ENST00000382806.6:c.3487C>T	ENSP00000372256.2:p.Leu1163=
ENST00000415360.1:c.574C>T	ENSP00000389433.1:p.Leu192=
ENST00000440077.5:c.3535C>T	ENSP00000398543.1:p.Leu1179=
ENST00000469599.6:n.2256C>T
ENST00000492117.1:n.3550C>T
ENST00000541639.5:c.3751C>T	ENSP00000444293.1:p.Leu1251=
NM_001146705.1:c.3751C>T	NP_001140177.1:p.Leu1251=
NM_001146706.1:c.3487C>T	NP_001140178.1:p.Leu1163=
NM_004653.4:c.3658C>T	NP_004644.2:p.Leu1220=
XM_005262560.1:c.3523C>T	XP_005262617.1:p.Leu1175=
XM_005262561.1:c.3427C>T	XP_005262618.1:p.Leu1143=
XM_011531468.1:c.3580C>T	XP_011529770.1:p.Leu1194=
XR_244571.2:n.3946C>T
XR_430568.2:n.4280C>T
XM_005262560.3:c.3523C>T	XP_005262617.1:p.Leu1175=
XM_005262561.3:c.3427C>T	XP_005262618.1:p.Leu1143=
XM_011531468.3:c.3580C>T	XP_011529770.1:p.Leu1194=
XM_024452495.1:c.1648C>T	XP_024308263.1:p.Leu550=
XM_024452496.1:c.1414C>T	XP_024308264.1:p.Leu472=
XR_001756009.2:n.4396C>T
XR_001756010.2:n.4396C>T
XR_001756011.2:n.4261C>T
XR_001756012.2:n.4409C>T
XR_001756013.2:n.3727C>T
XR_002958832.1:n.3828C>T
XR_002958834.1:n.4052C>T
XR_002958835.1:n.3935C>T
XR_002958836.1:n.4618C>T
XR_002958837.1:n.4425C>T
XR_244571.4:n.3945C>T
XR_430568.4:n.4279C>T
NM_001146706.2:c.3487C>T	NP_001140178.1:p.Leu1163=
NM_004653.5:c.3658C>T MANE Select	NP_004644.2:p.Leu1220=
NM_001146705.2:c.3751C>T	NP_001140177.1:p.Leu1251=