Canonical Allele Identifier: CA360805124

Gene: SLC22A5

Linked Data

• gnomAD v4: 5-132385420-T-C
• MyVariant Identifiers: chr5:g.131721112T>C (hg19) ; chr5:g.132385420T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132385420T>C , CM000667.2:g.132385420T>C	GRCh38
NC_000005.9:g.131721112T>C , CM000667.1:g.131721112T>C	GRCh37
NC_000005.8:g.131749011T>C	NCBI36
NG_008982.1:g.20712T>C
NG_008982.2:g.20717T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000415928.6:c.665+1106T>C	ENSP00000388838.2:n.665+1106T>C
ENST00000435065.7:c.817T>C	ENSP00000402760.2:p.Phe273Leu
ENST00000448810.6:c.745T>C	ENSP00000401860.2:p.Phe249Leu
ENST00000686757.1:c.764T>C	ENSP00000510721.1:p.Val255Ala
ENST00000687740.1:n.1905T>C
ENST00000688151.1:n.1937T>C
ENST00000689271.1:c.671+1100T>C	ENSP00000510797.1:n.671+1100T>C
ENST00000690900.1:c.716T>C	ENSP00000510703.1:p.Val239Ala
ENST00000692212.1:n.571T>C
ENST00000692355.1:c.204+1119T>C
ENST00000692413.1:c.764T>C	ENSP00000509374.1:p.Val255Ala
ENST00000692825.1:c.813T>C	ENSP00000509447.1:n.813T>C
ENST00000693308.1:c.758T>C	ENSP00000509770.1:p.Val253Ala
ENST00000693763.1:n.1905T>C
ENST00000245407.8:c.745T>C MANE Select	ENSP00000245407.3:p.Phe249Leu
ENST00000245407.7:c.745T>C	ENSP00000245407.3:p.Phe249Leu
ENST00000415928.5:c.514T>C	ENSP00000388838.1:p.Phe172Leu
ENST00000435065.6:c.817T>C	ENSP00000402760.2:p.Phe273Leu
ENST00000437841.6:c.*60T>C	ENSP00000400553.1:n.*60T>C
ENST00000448810.5:c.93T>C
ENST00000461013.5:n.8167T>C
NM_001308122.1:c.817T>C	NP_001295051.1:p.Phe273Leu
NM_003060.3:c.745T>C	NP_003051.1:p.Phe249Leu
XM_011543590.1:c.127T>C	XP_011541892.1:p.Phe43Leu
XR_427718.1:n.1105T>C
XR_948290.1:n.1086T>C
XR_948291.1:n.1099T>C
XM_011543590.2:c.127T>C	XP_011541892.1:p.Phe43Leu
XM_017009778.2:c.217T>C	XP_016865267.1:p.Phe73Leu
XR_001742215.1:n.1086T>C
XR_001742216.1:n.1105T>C
XR_427718.2:n.1105T>C
XR_948290.2:n.1086T>C
XR_948291.2:n.1099T>C
NM_003060.4:c.745T>C MANE Select	NP_003051.1:p.Phe249Leu
NM_001308122.2:c.817T>C	NP_001295051.1:p.Phe273Leu