Canonical Allele Identifier: CA414132442

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107938068A>C (hg19) ; chrX:g.108694838A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108694838A>C , CM000685.2:g.108694838A>C	GRCh38
NC_000023.10:g.107938068A>C , CM000685.1:g.107938068A>C	GRCh37
NC_000023.9:g.107824724A>C	NCBI36
NG_011977.1:g.259915A>C
NG_011977.2:g.259915A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4738A>C MANE Select	ENSP00000331902.7:p.Ile1580Leu
ENST00000361603.7:c.4720A>C	ENSP00000354505.2:p.Ile1574Leu
ENST00000510690.2:n.1232A>C
ENST00000644079.1:n.1224A>C
ENST00000328300.10:c.4738A>C	ENSP00000331902.6:p.Ile1580Leu
ENST00000361603.6:c.4720A>C	ENSP00000354505.2:p.Ile1574Leu
ENST00000504541.1:c.136A>C	ENSP00000424845.1:p.Ile46Leu
ENST00000515658.1:c.325-1459A>C
NM_000495.4:c.4720A>C	NP_000486.1:p.Ile1574Leu
NM_033380.2:c.4738A>C	NP_203699.1:p.Ile1580Leu
XM_005262070.2:c.4729A>C	XP_005262127.1:p.Ile1577Leu
XM_006724616.2:c.4738A>C	XP_006724679.1:p.Ile1580Leu
XM_011530849.1:c.4414A>C	XP_011529151.1:p.Ile1472Leu
XM_011530851.1:c.2311A>C	XP_011529153.1:p.Ile771Leu
XM_011530849.2:c.4753A>C	XP_011529151.2:p.Ile1585Leu
XM_017029259.2:c.4744A>C	XP_016884748.1:p.Ile1582Leu
XM_017029260.1:c.4735A>C	XP_016884749.1:p.Ile1579Leu
XM_017029263.2:c.3073A>C	XP_016884752.1:p.Ile1025Leu
NM_000495.5:c.4720A>C	NP_000486.1:p.Ile1574Leu
NM_033380.3:c.4738A>C MANE Select	NP_203699.1:p.Ile1580Leu