Canonical Allele Identifier: CA414132585

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107938131A>T (hg19) ; chrX:g.108694901A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108694901A>T , CM000685.2:g.108694901A>T	GRCh38
NC_000023.10:g.107938131A>T , CM000685.1:g.107938131A>T	GRCh37
NC_000023.9:g.107824787A>T	NCBI36
NG_011977.1:g.259978A>T
NG_011977.2:g.259978A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4801A>T MANE Select	ENSP00000331902.7:p.Ile1601Phe
ENST00000361603.7:c.4783A>T	ENSP00000354505.2:p.Ile1595Phe
ENST00000510690.2:n.1295A>T
ENST00000644079.1:n.1287A>T
ENST00000328300.10:c.4801A>T	ENSP00000331902.6:p.Ile1601Phe
ENST00000361603.6:c.4783A>T	ENSP00000354505.2:p.Ile1595Phe
ENST00000504541.1:c.199A>T	ENSP00000424845.1:p.Ile67Phe
ENST00000515658.1:c.325-1396A>T
NM_000495.4:c.4783A>T	NP_000486.1:p.Ile1595Phe
NM_033380.2:c.4801A>T	NP_203699.1:p.Ile1601Phe
XM_005262070.2:c.4792A>T	XP_005262127.1:p.Ile1598Phe
XM_006724616.2:c.4801A>T	XP_006724679.1:p.Ile1601Phe
XM_011530849.1:c.4477A>T	XP_011529151.1:p.Ile1493Phe
XM_011530851.1:c.2374A>T	XP_011529153.1:p.Ile792Phe
XM_011530849.2:c.4816A>T	XP_011529151.2:p.Ile1606Phe
XM_017029259.2:c.4807A>T	XP_016884748.1:p.Ile1603Phe
XM_017029260.1:c.4798A>T	XP_016884749.1:p.Ile1600Phe
XM_017029263.2:c.3136A>T	XP_016884752.1:p.Ile1046Phe
NM_000495.5:c.4783A>T	NP_000486.1:p.Ile1595Phe
NM_033380.3:c.4801A>T MANE Select	NP_203699.1:p.Ile1601Phe