Canonical Allele Identifier: CA414132814

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107938581A>C (hg19) ; chrX:g.108695351A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108695351A>C , CM000685.2:g.108695351A>C	GRCh38
NC_000023.10:g.107938581A>C , CM000685.1:g.107938581A>C	GRCh37
NC_000023.9:g.107825237A>C	NCBI36
NG_011977.1:g.260428A>C
NG_011977.2:g.260428A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.4906A>C MANE Select	ENSP00000331902.7:p.Ile1636Leu
ENST00000361603.7:c.4888A>C	ENSP00000354505.2:p.Ile1630Leu
ENST00000510690.2:n.1400A>C
ENST00000644079.1:n.1737A>C
ENST00000328300.10:c.4906A>C	ENSP00000331902.6:p.Ile1636Leu
ENST00000361603.6:c.4888A>C	ENSP00000354505.2:p.Ile1630Leu
ENST00000504541.1:c.219+430A>C	ENSP00000424845.1:n.219+430A>C
ENST00000515658.1:c.325-946A>C
NM_000495.4:c.4888A>C	NP_000486.1:p.Ile1630Leu
NM_033380.2:c.4906A>C	NP_203699.1:p.Ile1636Leu
XM_005262070.2:c.4897A>C	XP_005262127.1:p.Ile1633Leu
XM_006724616.2:c.4906A>C	XP_006724679.1:p.Ile1636Leu
XM_011530849.1:c.4582A>C	XP_011529151.1:p.Ile1528Leu
XM_011530851.1:c.2479A>C	XP_011529153.1:p.Ile827Leu
XM_011530849.2:c.4921A>C	XP_011529151.2:p.Ile1641Leu
XM_017029259.2:c.4912A>C	XP_016884748.1:p.Ile1638Leu
XM_017029260.1:c.4903A>C	XP_016884749.1:p.Ile1635Leu
XM_017029263.2:c.3241A>C	XP_016884752.1:p.Ile1081Leu
NM_000495.5:c.4888A>C	NP_000486.1:p.Ile1630Leu
NM_033380.3:c.4906A>C MANE Select	NP_203699.1:p.Ile1636Leu