Canonical Allele Identifier: CA414132893

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107938615A>T (hg19) ; chrX:g.108695385A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108695385A>T , CM000685.2:g.108695385A>T	GRCh38
NC_000023.10:g.107938615A>T , CM000685.1:g.107938615A>T	GRCh37
NC_000023.9:g.107825271A>T	NCBI36
NG_011977.1:g.260462A>T
NG_011977.2:g.260462A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4940A>T MANE Select	ENSP00000331902.7:p.Tyr1647Phe
ENST00000361603.7:c.4922A>T	ENSP00000354505.2:p.Tyr1641Phe
ENST00000510690.2:n.1434A>T
ENST00000644079.1:n.1771A>T
ENST00000328300.10:c.4940A>T	ENSP00000331902.6:p.Tyr1647Phe
ENST00000361603.6:c.4922A>T	ENSP00000354505.2:p.Tyr1641Phe
ENST00000504541.1:c.219+464A>T	ENSP00000424845.1:n.219+464A>T
ENST00000515658.1:c.325-912A>T
NM_000495.4:c.4922A>T	NP_000486.1:p.Tyr1641Phe
NM_033380.2:c.4940A>T	NP_203699.1:p.Tyr1647Phe
XM_005262070.2:c.4931A>T	XP_005262127.1:p.Tyr1644Phe
XM_006724616.2:c.4940A>T	XP_006724679.1:p.Tyr1647Phe
XM_011530849.1:c.4616A>T	XP_011529151.1:p.Tyr1539Phe
XM_011530851.1:c.2513A>T	XP_011529153.1:p.Tyr838Phe
XM_011530849.2:c.4955A>T	XP_011529151.2:p.Tyr1652Phe
XM_017029259.2:c.4946A>T	XP_016884748.1:p.Tyr1649Phe
XM_017029260.1:c.4937A>T	XP_016884749.1:p.Tyr1646Phe
XM_017029263.2:c.3275A>T	XP_016884752.1:p.Tyr1092Phe
NM_000495.5:c.4922A>T	NP_000486.1:p.Tyr1641Phe
NM_033380.3:c.4940A>T MANE Select	NP_203699.1:p.Tyr1647Phe