Canonical Allele Identifier: CA414844446

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869882A>G (hg19) ; chrY:g.19707996A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707996A>G , CM000686.2:g.19707996A>G	GRCh38
NC_000024.9:g.21869882A>G , CM000686.1:g.21869882A>G	GRCh37
NC_000024.8:g.20329270A>G	NCBI36
NG_032920.1:g.41944T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3337T>C MANE Select	ENSP00000322408.4:p.Tyr1113His
ENST00000317961.8:c.3337T>C	ENSP00000322408.4:p.Tyr1113His
ENST00000382806.6:c.3166T>C	ENSP00000372256.2:p.Tyr1056His
ENST00000415360.1:c.253T>C	ENSP00000389433.1:p.Tyr85His
ENST00000440077.5:c.3214T>C	ENSP00000398543.1:p.Tyr1072His
ENST00000469599.6:n.1935T>C
ENST00000492117.1:n.3229T>C
ENST00000541639.5:c.3430T>C	ENSP00000444293.1:p.Tyr1144His
NM_001146705.1:c.3430T>C	NP_001140177.1:p.Tyr1144His
NM_001146706.1:c.3166T>C	NP_001140178.1:p.Tyr1056His
NM_004653.4:c.3337T>C	NP_004644.2:p.Tyr1113His
XM_005262560.1:c.3202T>C	XP_005262617.1:p.Tyr1068His
XM_005262561.1:c.3106T>C	XP_005262618.1:p.Tyr1036His
XM_011531468.1:c.3259T>C	XP_011529770.1:p.Tyr1087His
XR_244571.2:n.3625T>C
XR_430568.2:n.3959T>C
XM_005262560.3:c.3202T>C	XP_005262617.1:p.Tyr1068His
XM_005262561.3:c.3106T>C	XP_005262618.1:p.Tyr1036His
XM_011531468.3:c.3259T>C	XP_011529770.1:p.Tyr1087His
XM_024452495.1:c.1327T>C	XP_024308263.1:p.Tyr443His
XM_024452496.1:c.1093T>C	XP_024308264.1:p.Tyr365His
XR_001756009.2:n.4075T>C
XR_001756010.2:n.4075T>C
XR_001756011.2:n.3940T>C
XR_001756012.2:n.4088T>C
XR_001756013.2:n.3406T>C
XR_002958832.1:n.3507T>C
XR_002958834.1:n.3731T>C
XR_002958835.1:n.3614T>C
XR_002958836.1:n.4297T>C
XR_002958837.1:n.4104T>C
XR_244571.4:n.3624T>C
XR_430568.4:n.3958T>C
NM_001146706.2:c.3166T>C	NP_001140178.1:p.Tyr1056His
NM_004653.5:c.3337T>C MANE Select	NP_004644.2:p.Tyr1113His
NM_001146705.2:c.3430T>C	NP_001140177.1:p.Tyr1144His